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A variant in the FPGS gene that is associated with congenital heart disease in humans.
| Variant ID and Type | Population Allelic Frequency (GnomAD) | ACMG Classification | Associated CHD Phenotypes | References |
|---|---|---|---|---|
| rs1544105 NM_004957.6: c.-2479C>T Intron |
48% | Benign | LVOTO | [43] |
Congenital heart disease (CHD), left ventricular outflow tract obstruction (LVOTO).
