ClinVar Miner

List of variants in gene CACNA1A reported as likely pathogenic by GeneDx

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Total variants: 21
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HGVS dbSNP
NM_001127221.1(CACNA1A):c.1084G>T (p.Glu362Ter) rs1064796640
NM_001127221.1(CACNA1A):c.1198+1G>A rs1057518513
NM_001127221.1(CACNA1A):c.1589_1590delTT (p.Phe530Tyrfs) rs1555761603
NM_001127221.1(CACNA1A):c.1597G>A (p.Glu533Lys) rs1064794263
NM_001127221.1(CACNA1A):c.1987C>T (p.Gln663Ter) rs1064795856
NM_001127221.1(CACNA1A):c.2136C>G (p.Ile712Met) rs764839814
NM_001127221.1(CACNA1A):c.2902G>T (p.Glu968Ter) rs1555755929
NM_001127221.1(CACNA1A):c.3042C>A (p.Tyr1014Ter)
NM_001127221.1(CACNA1A):c.3993-2A>G rs1057524483
NM_001127221.1(CACNA1A):c.4045C>T (p.Arg1349Trp) rs1064794858
NM_001127221.1(CACNA1A):c.4055G>T (p.Arg1352Leu) rs1555745467
NM_001127221.1(CACNA1A):c.4082C>A (p.Pro1361Gln) rs1064795800
NM_001127221.1(CACNA1A):c.409G>A (p.Glu137Lys) rs1057518116
NM_001127221.1(CACNA1A):c.4386G>A (p.Trp1462Ter) rs1057518069
NM_001127221.1(CACNA1A):c.4523C>A (p.Ala1508Asp) rs1064794629
NM_001127221.1(CACNA1A):c.4982G>A (p.Arg1661His) rs121908216
NM_001127221.1(CACNA1A):c.5134C>A (p.Gln1712Lys) rs1064795751
NM_001127221.1(CACNA1A):c.5842+1G>T rs951196653
NM_001127221.1(CACNA1A):c.6117delG (p.Met2039Ilefs) rs1064796199
NM_001127221.1(CACNA1A):c.6193-2A>C rs1064796709
NM_001127221.1(CACNA1A):c.992C>G (p.Ser331Ter) rs1555767930

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