ClinVar Miner

List of variants in gene CACNA1A reported as likely pathogenic for not provided

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Total variants: 76
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HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.1594G>A (p.Glu532Lys) rs1064794263 0.00001
NM_001127222.2(CACNA1A):c.2105-2A>G rs906086634 0.00001
NM_001127222.2(CACNA1A):c.3683C>T (p.Thr1228Met) rs1057518532 0.00001
NM_001127222.2(CACNA1A):c.4403C>T (p.Ser1468Leu) rs1211492911 0.00001
NM_001127222.2(CACNA1A):c.4978C>T (p.Arg1660Cys) rs779576853 0.00001
NM_001127222.2(CACNA1A):c.5032C>T (p.Arg1678Cys) rs121908243 0.00001
NM_001127222.2(CACNA1A):c.574C>T (p.Arg192Trp) rs1057518779 0.00001
GRCh37/hg19 19p13.2(chr19:13363805-13363915)x1
GRCh37/hg19 19p13.2(chr19:13427805-13682946)x1
GRCh37/hg19 19p13.2(chr19:13563690-13566026)x1
GRCh37/hg19 19p13.2(chr19:13563690-13617038)x1
NM_001127222.2(CACNA1A):c.104del (p.Gly35fs) rs1568720031
NM_001127222.2(CACNA1A):c.1084G>T (p.Glu362Ter) rs1064796640
NM_001127222.2(CACNA1A):c.1144C>T (p.Gln382Ter)
NM_001127222.2(CACNA1A):c.1198+1G>A rs1057518513
NM_001127222.2(CACNA1A):c.1500_1521del (p.Leu501fs) rs1555762855
NM_001127222.2(CACNA1A):c.1586_1587del (p.Phe529fs) rs1555761603
NM_001127222.2(CACNA1A):c.1762C>T (p.Arg588Cys) rs1282985383
NM_001127222.2(CACNA1A):c.1844G>A (p.Ser615Asn) rs1600292598
NM_001127222.2(CACNA1A):c.1946del (p.Asn649fs) rs1568518113
NM_001127222.2(CACNA1A):c.2026G>A (p.Gly676Arg) rs2144980758
NM_001127222.2(CACNA1A):c.2133C>G (p.Ile711Met) rs764839814
NM_001127222.2(CACNA1A):c.2551C>T (p.Gln851Ter) rs1600273534
NM_001127222.2(CACNA1A):c.2866C>T (p.Arg956Ter) rs1245624754
NM_001127222.2(CACNA1A):c.2896del (p.Glu966fs)
NM_001127222.2(CACNA1A):c.2899G>T (p.Glu967Ter) rs1555755929
NM_001127222.2(CACNA1A):c.2980G>T (p.Glu994Ter) rs1600271575
NM_001127222.2(CACNA1A):c.301G>A (p.Glu101Lys) rs886037944
NM_001127222.2(CACNA1A):c.3261_3316del (p.Leu1090fs) rs1555752975
NM_001127222.2(CACNA1A):c.3411dup (p.Lys1138fs) rs746790849
NM_001127222.2(CACNA1A):c.3692+1G>A rs1315533129
NM_001127222.2(CACNA1A):c.3731A>G (p.Tyr1244Cys)
NM_001127222.2(CACNA1A):c.3882+2T>C rs2057168559
NM_001127222.2(CACNA1A):c.399+1G>C rs2060983144
NM_001127222.2(CACNA1A):c.3990-2A>G rs1057524483
NM_001127222.2(CACNA1A):c.4034G>A (p.Arg1345Gln) rs121908230
NM_001127222.2(CACNA1A):c.4034G>T (p.Arg1345Leu)
NM_001127222.2(CACNA1A):c.4042C>T (p.Arg1348Trp) rs1064794858
NM_001127222.2(CACNA1A):c.4043G>C (p.Arg1348Pro) rs1057520918
NM_001127222.2(CACNA1A):c.4052G>T (p.Arg1351Leu) rs1555745467
NM_001127222.2(CACNA1A):c.4072C>T (p.Arg1358Trp) rs1555745461
NM_001127222.2(CACNA1A):c.4079C>A (p.Pro1360Gln) rs1064795800
NM_001127222.2(CACNA1A):c.409G>A (p.Glu137Lys) rs1057518116
NM_001127222.2(CACNA1A):c.4383G>A (p.Trp1461Ter) rs1057518069
NM_001127222.2(CACNA1A):c.4520C>A (p.Ala1507Asp) rs1064794629
NM_001127222.2(CACNA1A):c.4941dup (p.Glu1648Ter) rs2056193902
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His) rs121908216
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln) rs121908247
NM_001127222.2(CACNA1A):c.4996C>T (p.Arg1666Trp) rs121908220
NM_001127222.2(CACNA1A):c.4997G>A (p.Arg1666Gln) rs1568447650
NM_001127222.2(CACNA1A):c.5125G>A (p.Gly1709Arg) rs1555738200
NM_001127222.2(CACNA1A):c.5131C>A (p.Gln1711Lys) rs1064795751
NM_001127222.2(CACNA1A):c.5215C>T (p.Arg1739Trp) rs2144646626
NM_001127222.2(CACNA1A):c.5248C>T (p.Arg1750Trp) rs1568446845
NM_001127222.2(CACNA1A):c.5260G>A (p.Gly1754Arg) rs1555737113
NM_001127222.2(CACNA1A):c.5392T>C (p.Ser1798Pro) rs1568443280
NM_001127222.2(CACNA1A):c.5393C>T (p.Ser1798Leu) rs1064794261
NM_001127222.2(CACNA1A):c.5400+2T>C rs1057519197
NM_001127222.2(CACNA1A):c.5419G>A (p.Ala1807Thr) rs1555736565
NM_001127222.2(CACNA1A):c.5476del (p.His1826fs) rs1600127096
NM_001127222.2(CACNA1A):c.5529-1171G>A rs1555736262
NM_001127222.2(CACNA1A):c.5529-1215C>G
NM_001127222.2(CACNA1A):c.5839+1G>T rs951196653
NM_001127222.2(CACNA1A):c.6043G>T (p.Gly2015Ter) rs746848153
NM_001127222.2(CACNA1A):c.6051-1G>A rs2144525222
NM_001127222.2(CACNA1A):c.605C>T (p.Pro202Leu) rs2144559262
NM_001127222.2(CACNA1A):c.6155del (p.Pro2052fs) rs1158454977
NM_001127222.2(CACNA1A):c.6189+1G>A rs2144524396
NM_001127222.2(CACNA1A):c.6190-2A>C rs1064796709
NM_001127222.2(CACNA1A):c.631+5G>A rs786200963
NM_001127222.2(CACNA1A):c.6408_6409insTAGCCTG (p.Asp2137Ter) rs2054719760
NM_001127222.2(CACNA1A):c.680T>G (p.Leu227Arg) rs1057522420
NM_001127222.2(CACNA1A):c.736G>A (p.Glu246Lys)
NM_001127222.2(CACNA1A):c.814T>C (p.Cys272Arg) rs1568569290
NM_001127222.2(CACNA1A):c.835C>T (p.Arg279Cys) rs1555773764
NM_001127222.2(CACNA1A):c.904G>A (p.Asp302Asn) rs863224852

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