ClinVar Miner

List of variants in gene CACNA1S reported as pathogenic

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Total variants: 20
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HGVS dbSNP
NM_000069.3(CACNA1S):c.1503C>A (p.Cys501Ter) rs762294904
NM_000069.3(CACNA1S):c.1582C>G (p.Arg528Gly) rs80338778
NM_000069.3(CACNA1S):c.1583G>A (p.Arg528His) rs80338777
NM_000069.3(CACNA1S):c.1796del (p.Asn599fs) rs1558071742
NM_000069.3(CACNA1S):c.1847G>A (p.Trp616Ter)
NM_000069.3(CACNA1S):c.2627T>A (p.Val876Glu) rs267606698
NM_000069.3(CACNA1S):c.2691G>T (p.Arg897Ser) rs80338779
NM_000069.3(CACNA1S):c.2748C>G (p.His916Gln) rs2297902
NM_000069.3(CACNA1S):c.2812del (p.Leu938fs)
NM_000069.3(CACNA1S):c.2970G>A (p.Trp990Ter)
NM_000069.3(CACNA1S):c.3526-2A>G rs797045031
NM_000069.3(CACNA1S):c.3715C>G (p.Arg1239Gly) rs28930069
NM_000069.3(CACNA1S):c.3716G>A (p.Arg1239His) rs28930068
NM_000069.3(CACNA1S):c.4025C>A (p.Ser1342Ter)
NM_000069.3(CACNA1S):c.4871_4874del (p.Asn1624fs)
NM_000069.3(CACNA1S):c.502C>T (p.Arg168Ter) rs201998231
NM_000069.3(CACNA1S):c.5104C>T (p.Arg1702Ter) rs550371466
NM_000069.3(CACNA1S):c.564del (p.Ile189fs) rs1553252746
NM_000069.3(CACNA1S):c.732del (p.Cys245fs)
NM_000069.3(CACNA1S):c.897C>G (p.Tyr299Ter)

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