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A variant in the CBS gene that is associated with congenital heart disease in humans.
| Variant ID and Type | Population Allelic Frequency (GnomAD) | ACMG Classification | Associated CHD Phenotypes | References |
|---|---|---|---|---|
| rs2850144 NM_000071.3: c.-1181G>C 5 prime UTR variant, promoter |
68% | Benign | CHD in general | [102] |
| Septation defects | [102] | |||
| Conotruncal | [102] |
Congenital heart disease (CHD).
