ClinVar Miner

List of variants in gene CACNA1C reported as likely pathogenic for congenital heart disease

Included ClinVar conditions (289):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000719.7(CACNA1C):c.1553G>A (p.Arg518His) rs1057517711 0.00001
NM_000719.7(CACNA1C):c.2579G>A (p.Arg860Gln) rs730880056 0.00001
NM_000719.7(CACNA1C):c.1113G>A (p.Trp371Ter) rs1555672574
NM_000719.7(CACNA1C):c.1609A>G (p.Asn537Asp) rs1467561684
NM_000719.7(CACNA1C):c.2317_2319del (p.Lys773del) rs786205771
NM_000719.7(CACNA1C):c.2451del (p.Ala818fs) rs2153231721
NM_000719.7(CACNA1C):c.2570C>T (p.Pro857Leu) rs750835733
NM_000719.7(CACNA1C):c.2579G>C (p.Arg860Pro) rs730880056
NM_000719.7(CACNA1C):c.3061T>C (p.Cys1021Arg) rs1057518301
NM_000719.7(CACNA1C):c.3085A>G (p.Ile1029Val)
NM_000719.7(CACNA1C):c.4418C>G (p.Ala1473Gly) rs794727587
NM_000719.7(CACNA1C):c.722T>C (p.Val241Ala) rs2099444326
NM_001167623.2(CACNA1C):c.1216G>A (p.Gly406Arg) rs786205745

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