ClinVar Miner

List of variants in gene CACNA1S reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_000069.3(CACNA1S):c.2440G>A (p.Ala814Thr) rs139956524 0.00135
NM_000069.3(CACNA1S):c.530C>T (p.Ser177Leu) rs141204958 0.00029
NM_000069.3(CACNA1S):c.743C>T (p.Thr248Met) rs200665694 0.00021
NM_000069.3(CACNA1S):c.3664G>A (p.Val1222Ile) rs202240111 0.00009
NM_000069.3(CACNA1S):c.4679G>A (p.Arg1560Gln) rs372436488 0.00008
NM_000069.3(CACNA1S):c.1345A>G (p.Ile449Val) rs369139165 0.00006
NM_000069.3(CACNA1S):c.3256C>T (p.Arg1086Cys) rs80338782 0.00006
NM_000069.3(CACNA1S):c.3761G>A (p.Arg1254Gln) rs530655602 0.00006
NM_000069.3(CACNA1S):c.398+3G>A rs764710968 0.00005
NM_000069.3(CACNA1S):c.4170C>G (p.Asp1390Glu) rs371849585 0.00005
NM_000069.3(CACNA1S):c.2839G>A (p.Val947Ile) rs76460090 0.00004
NM_000069.3(CACNA1S):c.454A>G (p.Met152Val) rs369332959 0.00004
NM_000069.3(CACNA1S):c.670A>G (p.Lys224Glu) rs374763528 0.00003
NM_000069.3(CACNA1S):c.2594G>A (p.Arg865His) rs545411173 0.00002
NM_000069.3(CACNA1S):c.481G>A (p.Val161Ile) rs138265497 0.00002
NM_000069.3(CACNA1S):c.758G>A (p.Arg253Gln) rs768015104 0.00002
NM_000069.3(CACNA1S):c.764C>T (p.Thr255Ile) rs763637720 0.00002
NM_000069.3(CACNA1S):c.1001G>C (p.Ser334Thr) rs1019448884 0.00001
NM_000069.3(CACNA1S):c.2836G>A (p.Gly946Ser) rs569324688 0.00001
NM_000069.3(CACNA1S):c.3419A>G (p.Tyr1140Cys) rs1043042231 0.00001
NM_000069.3(CACNA1S):c.3609+6T>C rs1369529387 0.00001
NM_000069.3(CACNA1S):c.4034C>T (p.Ala1345Val) rs763153237 0.00001
NM_000069.3(CACNA1S):c.736G>A (p.Ala246Thr) rs779799849 0.00001
NM_000069.3(CACNA1S):c.1493G>A (p.Arg498His) rs150590855
NM_000069.3(CACNA1S):c.1493G>T (p.Arg498Leu) rs150590855
NM_000069.3(CACNA1S):c.1720G>A (p.Ala574Thr)
NM_000069.3(CACNA1S):c.1860G>A (p.Met620Ile)
NM_000069.3(CACNA1S):c.1926C>G (p.Ile642Met) rs1294275087
NM_000069.3(CACNA1S):c.2581G>A (p.Gly861Ser)
NM_000069.3(CACNA1S):c.2839G>T (p.Val947Phe)
NM_000069.3(CACNA1S):c.3971C>T (p.Ala1324Val) rs777173963
NM_000069.3(CACNA1S):c.4523A>G (p.Gln1508Arg)
NM_000069.3(CACNA1S):c.5005G>A (p.Ala1669Thr) rs199989324
NM_000069.3(CACNA1S):c.5392G>C (p.Gly1798Arg)
NM_000069.3(CACNA1S):c.5507G>A (p.Arg1836Gln) rs368214163

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