ClinVar Miner

List of variants in gene CACNA1S reported by OMIM

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000069.2(CACNA1S):c.-476G>A rs2281845 0.50680
NM_000069.3(CACNA1S):c.258+57G>A rs1325310 0.28632
NM_000069.3(CACNA1S):c.665T>A (p.Met222Lys) rs1287586310 0.00003
NM_000069.3(CACNA1S):c.1583G>A (p.Arg528His) rs80338777 0.00001
NM_000069.3(CACNA1S):c.2365C>T (p.Arg789Cys) rs148895719 0.00001
NM_000069.3(CACNA1S):c.2366G>A (p.Arg789His) rs1157720606 0.00001
NM_000069.3(CACNA1S):c.1189_1190del (p.Ser397fs)
NM_000069.3(CACNA1S):c.2224C>T (p.Pro742Ser)
NM_000069.3(CACNA1S):c.2225C>A (p.Pro742Gln)
NM_000069.3(CACNA1S):c.2371del (p.Leu791fs)
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.3257G>A (p.Arg1086His) rs1800559
NM_000069.3(CACNA1S):c.3414+67A>G rs28986463
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.4099C>G (p.Leu1367Val) rs1660628086
NM_000069.3(CACNA1S):c.4453C>T (p.Gln1485Ter)
NM_000069.3(CACNA1S):c.4967del (p.Leu1656fs)
NM_000069.3(CACNA1S):c.825C>A (p.Phe275Leu)

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