ClinVar Miner

List of variants in gene CACNA1A studied for History of neurodevelopmental disorder

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Total variants: 122
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HGVS dbSNP
NM_001127221.1(CACNA1A):c.1059C>A (p.Asn353Lys) rs1568546593
NM_001127221.1(CACNA1A):c.1083-4C>G rs201056216
NM_001127221.1(CACNA1A):c.1121G>A (p.Arg374Gln)
NM_001127221.1(CACNA1A):c.1182G>A (p.Glu394=) rs2248069
NM_001127221.1(CACNA1A):c.1231G>T (p.Gly411Trp) rs1448345243
NM_001127221.1(CACNA1A):c.1360G>A (p.Ala454Thr) rs41276886
NM_001127221.1(CACNA1A):c.1364G>A (p.Arg455Gln) rs561858384
NM_001127221.1(CACNA1A):c.1398G>A (p.Ser466=) rs374307014
NM_001127221.1(CACNA1A):c.1493C>G (p.Ala498Gly) rs1568528100
NM_001127221.1(CACNA1A):c.1521T>C (p.Val507=) rs16009
NM_001127221.1(CACNA1A):c.1548C>T (p.Ser516=) rs372275167
NM_001127221.1(CACNA1A):c.1549G>A (p.Asp517Asn)
NM_001127221.1(CACNA1A):c.1575T>A (p.Ile525=) rs16010
NM_001127221.1(CACNA1A):c.1596C>T (p.Ser532=) rs372090886
NM_001127221.1(CACNA1A):c.1617C>T (p.Tyr539=) rs182505786
NM_001127221.1(CACNA1A):c.1626G>A (p.Gly542=) rs375628894
NM_001127221.1(CACNA1A):c.1629G>A (p.Thr543=) rs16011
NM_001127221.1(CACNA1A):c.1637dup (p.Tyr546Ter) rs1568523843
NM_001127221.1(CACNA1A):c.1695G>A (p.Glu565=)
NM_001127221.1(CACNA1A):c.1699A>C (p.Ile567Leu) rs1568519066
NM_001127221.1(CACNA1A):c.1701C>T (p.Ile567=) rs190603219
NM_001127221.1(CACNA1A):c.1779C>G (p.Val593=) rs16012
NM_001127221.1(CACNA1A):c.1917-4G>A rs191026552
NM_001127221.1(CACNA1A):c.1925del (p.Phe642fs) rs1568518139
NM_001127221.1(CACNA1A):c.1992C>T (p.Ile664=) rs764413479
NM_001127221.1(CACNA1A):c.2013C>T (p.Asn671=)
NM_001127221.1(CACNA1A):c.2049C>T (p.Gly683=) rs535077726
NM_001127221.1(CACNA1A):c.2094G>A (p.Thr698=) rs16016
NM_001127221.1(CACNA1A):c.2133C>G (p.Ala711=) rs16017
NM_001127221.1(CACNA1A):c.2195A>C (p.Glu732Ala) rs16019
NM_001127221.1(CACNA1A):c.2259C>T (p.Ser753=)
NM_001127221.1(CACNA1A):c.2284A>G (p.Lys762Glu) rs1196111017
NM_001127221.1(CACNA1A):c.2400G>A (p.Pro800=) rs996453280
NM_001127221.1(CACNA1A):c.2407C>A (p.Arg803Ser) rs760816963
NM_001127221.1(CACNA1A):c.2498_2500ACA[2] (p.Asn835del) rs750962335
NM_001127221.1(CACNA1A):c.2504A>C (p.Asn835Thr)
NM_001127221.1(CACNA1A):c.2636A>T (p.Asp879Val) rs1568508904
NM_001127221.1(CACNA1A):c.2681G>A (p.Arg894Gln) rs374664760
NM_001127221.1(CACNA1A):c.2740C>T (p.Pro914Ser) rs16020
NM_001127221.1(CACNA1A):c.2742C>T (p.Pro914=) rs16021
NM_001127221.1(CACNA1A):c.2754G>C (p.Glu918Asp) rs16022
NM_001127221.1(CACNA1A):c.2826G>A (p.Glu942=) rs374511141
NM_001127221.1(CACNA1A):c.2829C>T (p.Ser943=) rs181024112
NM_001127221.1(CACNA1A):c.2894C>A (p.Pro965His) rs1161926847
NM_001127221.1(CACNA1A):c.294-4A>G rs1400044284
NM_001127221.1(CACNA1A):c.2958G>C (p.Pro986=) rs749357610
NM_001127221.1(CACNA1A):c.2971_2976GAGGGC[4] (p.991_992EG[4]) rs764399373
NM_001127221.1(CACNA1A):c.2978A>T (p.Glu993Val) rs16023
NM_001127221.1(CACNA1A):c.3007A>G (p.Arg1003Gly) rs1175036875
NM_001127221.1(CACNA1A):c.3031C>G (p.Pro1011Ala) rs28413664
NM_001127221.1(CACNA1A):c.3043G>A (p.Glu1015Lys) rs16024
NM_001127221.1(CACNA1A):c.3060G>A (p.Arg1020=) rs16025
NM_001127221.1(CACNA1A):c.3169C>T (p.Arg1057Cys) rs187393245
NM_001127221.1(CACNA1A):c.3230C>T (p.Ala1077Val) rs199512932
NM_001127221.1(CACNA1A):c.3240C>T (p.Ala1080=) rs16026
NM_001127221.1(CACNA1A):c.3250G>A (p.Gly1084Ser)
NM_001127221.1(CACNA1A):c.3268G>A (p.Gly1090Ser)
NM_001127221.1(CACNA1A):c.3307G>A (p.Asp1103Asn) rs372823282
NM_001127221.1(CACNA1A):c.3313G>A (p.Gly1105Ser) rs16027
NM_001127221.1(CACNA1A):c.3412C>G (p.Pro1138Ala) rs199793367
NM_001127221.1(CACNA1A):c.3424G>A (p.Glu1142Lys)
NM_001127221.1(CACNA1A):c.3432C>G (p.Ser1144Arg)
NM_001127221.1(CACNA1A):c.3549C>T (p.Val1183=) rs16029
NM_001127221.1(CACNA1A):c.357G>A (p.Gln119=) rs1568661972
NM_001127221.1(CACNA1A):c.3637G>T (p.Asp1213Tyr) rs201269793
NM_001127221.1(CACNA1A):c.3727C>G (p.Leu1243Val) rs1275961783
NM_001127221.1(CACNA1A):c.3729G>A (p.Leu1243=) rs1568491811
NM_001127221.1(CACNA1A):c.3864T>C (p.Phe1288=) rs16030
NM_001127221.1(CACNA1A):c.3992C>T (p.Thr1331Ile)
NM_001127221.1(CACNA1A):c.4224C>T (p.Asp1408=) rs201200430
NM_001127221.1(CACNA1A):c.4295G>A (p.Arg1432Gln)
NM_001127221.1(CACNA1A):c.4314G>A (p.Lys1438=) rs572036869
NM_001127221.1(CACNA1A):c.4414G>A (p.Ala1472Thr) rs1187916307
NM_001127221.1(CACNA1A):c.4582G>C (p.Glu1528Gln) rs1568468148
NM_001127221.1(CACNA1A):c.462C>T (p.Ala154=) rs1800039
NM_001127221.1(CACNA1A):c.4635C>T (p.Thr1545=) rs150378053
NM_001127221.1(CACNA1A):c.4673G>A (p.Arg1558His) rs755172189
NM_001127221.1(CACNA1A):c.4687G>A (p.Val1563Met) rs1568465560
NM_001127221.1(CACNA1A):c.4991G>A (p.Arg1664Gln) rs121908247
NM_001127221.1(CACNA1A):c.5091G>A (p.Leu1697=)
NM_001127221.1(CACNA1A):c.5158G>A (p.Asp1720Asn) rs368257155
NM_001127221.1(CACNA1A):c.5421C>T (p.Val1807=)
NM_001127221.1(CACNA1A):c.5652C>G (p.Pro1884=) rs61741139
NM_001127221.1(CACNA1A):c.5653G>A (p.Val1885Ile) rs201836062
NM_001127221.1(CACNA1A):c.5655C>T (p.Val1885=) rs17846921
NM_001127221.1(CACNA1A):c.5688C>T (p.Thr1896=) rs757291476
NM_001127221.1(CACNA1A):c.5742C>T (p.Ala1914=) rs16044
NM_001127221.1(CACNA1A):c.5798A>G (p.Asn1933Ser) rs1205866071
NM_001127221.1(CACNA1A):c.579G>A (p.Thr193=) rs41276894
NM_001127221.1(CACNA1A):c.5900G>A (p.Arg1967Gln) rs199886234
NM_001127221.1(CACNA1A):c.5935G>A (p.Glu1979Lys) rs1266642291
NM_001127221.1(CACNA1A):c.5997A>G (p.Glu1999=)
NM_001127221.1(CACNA1A):c.6064G>A (p.Glu2022Lys) rs202002033
NM_001127221.1(CACNA1A):c.6129G>A (p.Thr2043=) rs7249722
NM_001127221.1(CACNA1A):c.6145G>A (p.Glu2049Lys) rs1568423655
NM_001127221.1(CACNA1A):c.6244T>C (p.Tyr2082His) rs1174830824
NM_001127221.1(CACNA1A):c.6268C>A (p.Arg2090=) rs200093958
NM_001127221.1(CACNA1A):c.62C>T (p.Ala21Val) rs15999
NM_001127221.1(CACNA1A):c.633T>C (p.Ser211=) rs202216404
NM_001127221.1(CACNA1A):c.6345C>G (p.Thr2115=) rs16049
NM_001127221.1(CACNA1A):c.6381C>T (p.Ser2127=) rs16050
NM_001127221.1(CACNA1A):c.6382G>A (p.Val2128Met) rs368183370
NM_001127221.1(CACNA1A):c.6434C>T (p.Pro2145Leu) rs750077868
NM_001127221.1(CACNA1A):c.6467G>A (p.Arg2156His) rs572722130
NM_001127221.1(CACNA1A):c.6467G>T (p.Arg2156Leu) rs572722130
NM_001127221.1(CACNA1A):c.6470G>A (p.Arg2157His) rs755749925
NM_001127221.1(CACNA1A):c.6508C>T (p.Arg2170Cys) rs375354077
NM_001127221.1(CACNA1A):c.6530G>T (p.Gly2177Val) rs763045560
NM_001127221.1(CACNA1A):c.6633_6635CCA[10] (p.His2220dup) rs759331923
NM_001127221.1(CACNA1A):c.6633_6635CCA[8] (p.His2220del) rs759331923
NM_001127221.1(CACNA1A):c.6644_6661del (p.His2215_His2220del) rs1453912866
NM_001127221.1(CACNA1A):c.6653_6661del (p.His2218_His2220del) rs776181081
NM_001127221.1(CACNA1A):c.6659A>C (p.His2220Pro)
NM_001127221.1(CACNA1A):c.6659_6661del (p.His2220del) rs749638821
NM_001127221.1(CACNA1A):c.6660T>C (p.His2220=) rs16051
NM_001127221.1(CACNA1A):c.6661_6662insACC (p.His2220dup) rs768950814
NM_001127221.1(CACNA1A):c.6668C>T (p.Pro2223Leu) rs1336146310
NM_001127221.1(CACNA1A):c.6670C>T (p.Pro2224Ser)
NM_001127221.1(CACNA1A):c.6672C>A (p.Pro2224=)
NM_001127221.1(CACNA1A):c.6719G>A (p.Arg2240Gln)
NM_001127221.1(CACNA1A):c.6733C>T (p.Arg2245Cys)
NM_001127221.1(CACNA1A):c.876A>G (p.Glu292=) rs16006

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