ClinVar Miner

List of variants in gene CACNA1S reported as uncertain significance by Gharavi Laboratory,Columbia University

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Total variants: 23
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HGVS dbSNP
NM_000069.3(CACNA1S):c.1106G>A (p.Trp369Ter) rs1558076931
NM_000069.3(CACNA1S):c.1664C>G (p.Ser555Cys) rs1558071888
NM_000069.3(CACNA1S):c.1948+1G>A rs745712829
NM_000069.3(CACNA1S):c.2269C>T (p.Arg757Ter) rs770073633
NM_000069.3(CACNA1S):c.2491-1G>T rs1558067283
NM_000069.3(CACNA1S):c.2752G>T (p.Val918Leu) rs1558065059
NM_000069.3(CACNA1S):c.2755C>T (p.Gln919Ter) rs1558065045
NM_000069.3(CACNA1S):c.3157G>A (p.Ala1053Thr) rs1558062351
NM_000069.3(CACNA1S):c.3245A>G (p.Asp1082Gly) rs1558062219
NM_000069.3(CACNA1S):c.3398T>C (p.Ile1133Thr) rs1558061864
NM_000069.3(CACNA1S):c.3494T>A (p.Met1165Lys) rs1558061202
NM_000069.3(CACNA1S):c.3795G>T (p.Gln1265His) rs201627041
NM_000069.3(CACNA1S):c.3829C>T (p.Leu1277Phe) rs1558057794
NM_000069.3(CACNA1S):c.3954G>C (p.Arg1318Ser) rs1558056548
NM_000069.3(CACNA1S):c.3988del (p.Leu1330fs) rs757045433
NM_000069.3(CACNA1S):c.4081T>C (p.Phe1361Leu) rs1558056421
NM_000069.3(CACNA1S):c.4113+1G>A rs1558056376
NM_000069.3(CACNA1S):c.4679G>T (p.Arg1560Leu)
NM_000069.3(CACNA1S):c.5069del (p.Phe1690fs) rs1558049955
NM_000069.3(CACNA1S):c.5104C>T (p.Arg1702Ter) rs550371466
NM_000069.3(CACNA1S):c.514C>A (p.Pro172Thr)
NM_000069.3(CACNA1S):c.5620T>C (p.Ter1874Arg) rs1558047318
NM_000069.3(CACNA1S):c.791_812dup (p.Ile272fs) rs1558079148

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