ClinVar Miner

List of variants reported as pathogenic for congenital anomaly of cardiovascular system by Mendelics

Included ClinVar conditions (334):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000218.3(KCNQ1):c.551A>C (p.Tyr184Ser) rs199473397
NM_000719.7(CACNA1C):c.1853T>G (p.Val618Gly) rs2154593437
NM_000719.7(CACNA1C):c.3500T>C (p.Val1167Ala) rs2153440081
NM_000719.7(CACNA1C):c.595G>A (p.Asp199Asn) rs2154562881
NM_001292034.3(TAB2):c.1491T>G (p.Tyr497Ter) rs1562443558
NM_001368067.1(LDB3):c.494C>T (p.Ala165Val) rs121908334

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