TABLE 2.
List of all functionally characterized Class II LDLR variants.
| LDLR (NM_000527.4; NP_000518.1) class II variants with functional evidence | Variant class | References | Population frequency (gnomAD) | dbSNP ID |
| c.361T > C(p.C121R) | Class II | Guo et al. (2019) | N/A | rs879254492 |
| c.514G > T(p.D172Y) | Class IIB | Jeenduang et al. (2010) | N/A | rs879254554 |
| c.530C > T(p.S177L) | Class IIB | Li et al. (2004) | 1.59E-05 | rs121908026 |
| c.590G > A(p.C197Y) | Class IIB | Li et al. (2004) | 3.19E-05 | rs376459828 |
| c.665G > T(p.C222F) | Class IIB | Wang et al. (2014) | N/A | rs730882086 |
| c.682G > A(p.E228K) | Class IIA | Li et al. (2004) | 1.61E-05 | rs121908029 |
| c.1216C > T(p.R406W) | Class IIB or V | Benito-Vicente et al. (2015) | 1.77E-05 | rs121908043 |
| c.1285G > C(p.V429L) | Class IIA | Etxebarria et al. (2014) | N/A | rs28942078 |
| c.1322T > C(p.I441T) | Class IIA | Benito-Vicente et al. (2015) | N/A | rs879254862 |
| c.1444G > C(p.D482H) | Class II | Kizhakkedath et al. (2019) | N/A | rs139624145 |
| c.1468T > C(p.W490R) | Class IIA | Etxebarria et al. (2014) | N/A | rs730880130 |
| c.1633G > T(p.G545W) | Class IIA | Benito-Vicente et al. (2015) | N/A | rs879254965 |
| c.1694G > T(p.G565V) | Class II | Esser and Russell (1988) | N/A | rs28942082 |
| c.1723C > T(p.L575F) | Class II | Jiang et al. (2016) | 3.98E-06 | rs1205480064 |
| c.1729T > G(p.W577G) | Class IIA | Etxebarria et al. (2015) | N/A | rs879255000 |
| c.1729T > C(p.W577R) | Class II | Schaefer et al. (2012) | N/A | rs879255000 |
| c.1730G > C(p.W577S) | Class II | Holst et al. (2001) | 7.95E-06 | rs138947766 |
| c.1744C > T(p.L582F) | Class II | Jiang et al. (2016) | N/A | rs1131692216 |
| c.1750T > C(p.Ser584Pro) | Class IIA | Galicia-Garcia et al. (2020) | N/A | rs879255010 |
| c.1775G > A(p.Gly592Glu) | Class IIB | Susan-Resiga et al. (2017) | 5.66E-05 | rs137929307 |
| c.1865A > G(p.Asp622Gly) | Class IIA | Galicia-Garcia et al. (2020) | N/A | rs879255060 |
| c.1907G > T(p.G636V) | Class IIB | Wang et al. (2014) | N/A | N/A |
| c.1942T > C(p.S648P) | Class IIB | Etxebarria et al. (2014) | N/A | rs879255079 |
| c.2000G > T(p.C667F) | Class II | Kizhakkedath et al. (2019) | N/A | rs28942083 |
| c.2000G > A(p.C667Y) | Class IIA | Li et al. (2004) | 3.98E-06 | rs28942083 |
| c.2053C > T(p.P685S) | Class IIB | Etxebarria et al. (2014) | N/A | rs2569548 |
| c.2093 G > A(p.Cys698Tyr) | Class IIA | Galicia-Garcia et al. (2020) | N/A | rs879255136 |
| c.2119 G > T (p.Asp707Tyr) | Class IIA | Galicia-Garcia et al. (2020) | N/A | rs879255142 |
| c.654_656delTGG (p.Gly219del)a | Class II | Omer et al. (2017) | 2.79E-05 | rs121908027 |
| c.1871_1873delTCA (p.Ile624del)a | Class II | Etxebarria et al. (2015) | N/A | rs879255062 |
| c.1878delA (p.Ala627Profs*38)b | Class II | Banerjee et al. (2019) | N/A | rs1057516134 |
| c.2043C > A (p.Cys681Ter)b | Class II | Banerjee et al. (2019) | 7.96E-06 | rs121908031 |
| c.2399_2403delTCTTCinsGGGT (p.Val800Glyfs*129)b | Class II | Etxebarria et al. (2015) | N/A | rs879255198 |
| c.1885_1889delTTCAGinsGATCATCAACC (p.Phe629_Ser630delinsAspHisGlnPro)c | Class II | Shu et al. (2017) | N/A | N/A |
aIn-frame amino acid deletions. bProtein truncating variant. cComplex deletion-insertion.