Table 2.

Previously Reported “Putative Pathogenic” KCNQ1 Missense Variants Observed in ≥ 10 GnomAD Exomes/Genomes - Candidates for Variant Demotion

Variant	Region	Number of Cases	gnomAD Count	gnomAD Alleles	gnomAD Minor Allele Frequency	In Silico Composite Score
P73T	N-Terminal	5	26	184800	1.41E-04	2
V110I	N-Terminal	1	16	256662	6.23E-05	1
T153M	Transmembrane	1	47	282484	1.66E-04	3
V172M	Transmembrane	2	15	281308	5.33E-05	3
R195Q	Transmembrane	3	11	280744	3.92E-05	6
P197L	Transmembrane	1	12	250424	4.79E-05	7
I274V	Transmembrane	1	50	282172	1.77E-04	5
A287E	Transmembrane	2	14	251832	5.56E-05	4
G292D	Transmembrane	3	12	282052	4.25E-05	4
R293C	Transmembrane	5	11	282024	3.90E-05	5
A300T	Transmembrane	1	12	251490	4.77E-05	5
K362R	C-Terminal	14	10	252376	3.96E-05	7
A370V	C-Terminal	1	41	282496	1.54E-04	5
K393N	C-Terminal	8	295	282632	1.04E-03	3
R397W	C-Terminal	3	52	282622	4.84E-04	6
A399S	C-Terminal	1	21	252344	8.32E-05	1
P408A	C-Terminal	4	455	282646	1.61E-03	1
D446E	C-Terminal	2	19	251590	7.55E-05	0
P448R	C-Terminal	11	1980	281966	7.02E-03	1
R452Q	C-Terminal	1	29	281386	1.03E-04	2
R452W	C-Terminal	1	29	281402	1.03E-04	5
G460S	C-Terminal	1	12	250486	4.79E-05	2
V576I	C-Terminal	3	16	252148	6.35E-05	0
G589D	C-Terminal	2	13	282250	4.61E-05	5
T600M	C-Terminal	3	47	213756	2.20E-04	2
D611N	C-Terminal	1	20	210372	9.51E-05	2
G629S	C-Terminal	1	11	212754	5.17E-05	0
G643S	C-Terminal	11	1407	223544	6.29E-03	0
V648I	C-Terminal	7	525	214146	2.45E-03	0