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A variant in the GNMT gene that is associated with congenital heart disease in humans.
| Variant ID and Type | Population Allelic Frequency (GnomAD) | ACMG Classification | Associated CHD Phenotypes | References |
|---|---|---|---|---|
| rs11752813 NM_018960.6: c.-489C>G Regulatory, promoter |
40% | Benign | CHD in general | [94] |
Congenital heart disease (CHD).
