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A variant in the MTHFS gene that is associated with congenital heart disease in humans.
| Variant ID and Type | Population Allelic Frequency (GnomAD) | ACMG Classification | Associated CHD Phenotypes | References |
|---|---|---|---|---|
| rs12438477 NM_006441.4: c.379+3152G>T Intron |
43% | Benign | CHD in general | [94] |
| Conotruncal | [95] |
Congenital heart disease (CHD).
