ClinVar Miner

List of variants in gene combination CERS1, GDF1 reported as likely pathogenic for congenital anomaly of cardiovascular system

Included ClinVar conditions (333):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001492.6(GDF1):c.1091T>C (p.Met364Thr) rs374016704 0.00028
NM_001492.6(GDF1):c.1047_1050del (p.Phe349fs) rs768027510
NM_001492.6(GDF1):c.380G>A (p.Trp127Ter) rs900625437
NM_001492.6(GDF1):c.776_801del (p.Leu259fs) rs1555702261
NM_021267.5(CERS1):c.*1120G>A rs2145985085

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