ClinVar Miner

List of variants in gene CACNA1C studied for cardiac rhythm disease

Included ClinVar conditions (118):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000719.7(CACNA1C):c.6116C>G (p.Ala2039Gly) rs549476254 0.00009
NM_000719.7(CACNA1C):c.1555G>A (p.Ala519Thr) rs371702432 0.00004
NM_000719.7(CACNA1C):c.5599C>T (p.Arg1867Trp) rs369421219 0.00004
NM_000719.7(CACNA1C):c.3391G>A (p.Asp1131Asn) rs776318939 0.00001
NM_000719.7(CACNA1C):c.1582T>G (p.Trp528Gly) rs755846732
NM_000719.7(CACNA1C):c.32del (p.Pro11fs) rs2052999161
NM_000719.7(CACNA1C):c.5626A>G (p.Lys1876Glu) rs869025368
NM_000719.7(CACNA1C):c.985G>A (p.Gly329Ser) rs786205744
NM_001167623.2(CACNA1C):c.1204G>A (p.Gly402Ser) rs587782933

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