ClinVar Miner

List of variants in gene CACNA1S studied for Hypokalemic periodic paralysis 1

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Total variants: 12
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HGVS dbSNP
NM_000069.3(CACNA1S):c.1285G>A (p.Val429Met)
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.2157+1G>A
NM_000069.3(CACNA1S):c.2327C>A (p.Ala776Asp) rs1428214499
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.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.530C>T (p.Ser177Leu) rs141204958

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