ClinVar Miner

List of variants in gene CACNA1S reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_000069.3(CACNA1S):c.4113+7T>C rs6702590 0.77496
NM_000069.3(CACNA1S):c.1828-5T>C rs1998721 0.71016
NM_000069.3(CACNA1S):c.1551T>C (p.Gly517=) rs4915477 0.70571
NM_000069.3(CACNA1S):c.2403T>C (p.Phe801=) rs7415038 0.43715
NM_000069.3(CACNA1S):c.597C>T (p.Ile199=) rs2296383 0.32034
NM_000069.3(CACNA1S):c.4060A>T (p.Thr1354Ser) rs145910245 0.00349
NM_000069.3(CACNA1S):c.5049-2A>G rs148989517 0.00056
NM_000069.3(CACNA1S):c.2957G>A (p.Arg986His) rs140453525 0.00031
NM_000069.3(CACNA1S):c.4747G>A (p.Glu1583Lys) rs148273582 0.00026
NM_000069.3(CACNA1S):c.3256C>T (p.Arg1086Cys) rs80338782 0.00006
NM_000069.3(CACNA1S):c.2632G>A (p.Val878Met) rs202131129 0.00004
NM_000069.3(CACNA1S):c.2055G>C (p.Lys685Asn) rs200844059 0.00003
NM_000069.3(CACNA1S):c.2365C>T (p.Arg789Cys) rs148895719 0.00001
NM_000069.3(CACNA1S):c.766A>G (p.Ile256Val) rs190152688 0.00001
NM_000069.3(CACNA1S):c.1694T>A (p.Leu565Gln) rs2102142533
NM_000069.3(CACNA1S):c.185T>C (p.Phe62Ser)
NM_000069.3(CACNA1S):c.2167G>A (p.Asp723Asn)
NM_000069.3(CACNA1S):c.2491-17C>A
NM_000069.3(CACNA1S):c.2658-14T>C
NM_000069.3(CACNA1S):c.3256-13G>T
NM_000069.3(CACNA1S):c.3287G>T (p.Arg1096Leu) rs142102094
NM_000069.3(CACNA1S):c.356G>A (p.Arg119His) rs749588662
NM_000069.3(CACNA1S):c.3609+1G>A
NM_000069.3(CACNA1S):c.4786G>T (p.Gly1596Ter) rs751048080
NM_000069.3(CACNA1S):c.4931T>A (p.Leu1644Ter)
NM_000069.3(CACNA1S):c.5104C>T (p.Arg1702Ter) rs550371466

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