ClinVar Miner

List of variants in gene CACNA1A reported by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 105
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HGVS dbSNP
NM_000068.4(CACNA1A):c.1067T>C (p.Leu356Pro) rs1568546568
NM_000068.4(CACNA1A):c.1233G>A (p.Gly411=) rs764453012
NM_000068.4(CACNA1A):c.1323T>C (p.Asp441=) rs1555766555
NM_000068.4(CACNA1A):c.1521T>C (p.Val507=) rs16009
NM_000068.4(CACNA1A):c.159G>T (p.Ala53=) rs767892925
NM_000068.4(CACNA1A):c.1617C>T (p.Tyr539=) rs182505786
NM_000068.4(CACNA1A):c.2134A>T (p.Ile712Phe) rs1568514116
NM_000068.4(CACNA1A):c.2493G>A (p.Pro831=) rs1568509413
NM_000068.4(CACNA1A):c.2749_2751delinsTCT (p.Pro917Ser) rs886043758
NM_000068.4(CACNA1A):c.2864C>T (p.Ala955Val) rs1442995931
NM_000068.4(CACNA1A):c.3104A>G (p.Glu1035Gly) rs886043930
NM_000068.4(CACNA1A):c.330G>A (p.Ala110=) rs375486960
NM_000068.4(CACNA1A):c.3649G>A (p.Gly1217Ser) rs767000559
NM_000068.4(CACNA1A):c.4302G>T (p.Ala1434=) rs555959123
NM_000068.4(CACNA1A):c.5032C>T (p.Arg1678Cys) rs794727558
NM_000068.4(CACNA1A):c.504C>G (p.Gly168=) rs1555789105
NM_000068.4(CACNA1A):c.5066C>T (p.Thr1689Ile) rs1568447571
NM_000068.4(CACNA1A):c.5334G>A (p.Lys1778=) rs886043622
NM_000068.4(CACNA1A):c.592C>G (p.Arg198Gly) rs886042230
NM_000068.4(CACNA1A):c.6084C>T (p.Ser2028=) rs886043571
NM_000068.4(CACNA1A):c.6323G>A (p.Arg2108Lys) rs866974416
NM_000068.4(CACNA1A):c.6648_6650CCA[10] (p.His2225dup) rs759331923
NM_000068.4(CACNA1A):c.6648_6650CCA[6] (p.His2223_His2225del) rs759331923
NM_000068.4(CACNA1A):c.6671_6676del (p.His2224_His2225del) rs774721955
NM_000068.4(CACNA1A):c.6675delinsCCAC (p.His2225dup) rs1057518615
NM_000068.4(CACNA1A):c.6677_6679ACC[3] (p.His2223_His2225dup) rs768950814
NM_000068.4(CACNA1A):c.6755C>T (p.Ser2252Phe) rs768312851
NM_000068.4(CACNA1A):c.699A>G (p.Leu233=) rs749587119
NM_001127221.1(CACNA1A):c.1083-4C>G rs201056216
NM_001127221.1(CACNA1A):c.1360G>A (p.Ala454Thr) rs41276886
NM_001127221.1(CACNA1A):c.1558+10A>C rs794727022
NM_001127221.1(CACNA1A):c.1671+9T>C rs794727054
NM_001127221.1(CACNA1A):c.1785-6C>T rs201350764
NM_001127221.1(CACNA1A):c.2983_2988dup rs764399373
NM_001127221.1(CACNA1A):c.3093-5C>T rs976595665
NM_001127221.1(CACNA1A):c.3607_3609del rs772989979
NM_001127221.1(CACNA1A):c.3618_3620del rs750826355
NM_001127221.1(CACNA1A):c.3825+1G>A rs794727355
NM_001127221.1(CACNA1A):c.4092+3G>A rs781595676
NM_001127221.1(CACNA1A):c.5136+10G>A rs369033909
NM_001127221.1(CACNA1A):c.5735-6T>C rs16043
NM_001127221.1(CACNA1A):c.5900G>A (p.Arg1967Gln) rs199886234
NM_001127221.1(CACNA1A):c.978+9T>C rs111366222
NM_001127222.2(CACNA1A):c.1170T>A (p.Asn390Lys) rs768768744
NM_001127222.2(CACNA1A):c.1182G>A (p.Glu394=) rs2248069
NM_001127222.2(CACNA1A):c.1361G>A (p.Arg454Gln) rs561858384
NM_001127222.2(CACNA1A):c.1389G>A (p.Glu463=) rs886043657
NM_001127222.2(CACNA1A):c.1395G>A (p.Ser465=) rs374307014
NM_001127222.2(CACNA1A):c.1572T>A (p.Ile524=) rs16010
NM_001127222.2(CACNA1A):c.1623G>A (p.Gly541=) rs375628894
NM_001127222.2(CACNA1A):c.2130C>G (p.Ala710=) rs16017
NM_001127222.2(CACNA1A):c.2676C>T (p.Ser892=) rs780515850
NM_001127222.2(CACNA1A):c.2678G>A (p.Arg893Gln) rs374664760
NM_001127222.2(CACNA1A):c.2687C>G (p.Pro896Arg) rs121908242
NM_001127222.2(CACNA1A):c.2737C>T (p.Pro913Ser) rs16020
NM_001127222.2(CACNA1A):c.2739C>T (p.Pro913=) rs16021
NM_001127222.2(CACNA1A):c.2751G>C (p.Glu917Asp) rs16022
NM_001127222.2(CACNA1A):c.2867G>T (p.Arg956Leu) rs551380805
NM_001127222.2(CACNA1A):c.2975A>T (p.Glu992Val) rs16023
NM_001127222.2(CACNA1A):c.3016C>T (p.Arg1006Trp) rs757026025
NM_001127222.2(CACNA1A):c.3057G>A (p.Arg1019=) rs16025
NM_001127222.2(CACNA1A):c.3237C>T (p.Ala1079=) rs16026
NM_001127222.2(CACNA1A):c.3309C>T (p.Pro1103=) rs374749004
NM_001127222.2(CACNA1A):c.3310G>A (p.Gly1104Ser) rs16027
NM_001127222.2(CACNA1A):c.3355G>A (p.Ala1119Thr) rs199745070
NM_001127222.2(CACNA1A):c.3409C>G (p.Pro1137Ala) rs199793367
NM_001127222.2(CACNA1A):c.3436G>A (p.Val1146Ile) rs376365775
NM_001127222.2(CACNA1A):c.3457C>G (p.Gln1153Glu) rs201612257
NM_001127222.2(CACNA1A):c.3525A>C (p.Pro1175=) rs886044439
NM_001127222.2(CACNA1A):c.3531C>A (p.Pro1177=) rs184723350
NM_001127222.2(CACNA1A):c.3531C>G (p.Pro1177=) rs184723350
NM_001127222.2(CACNA1A):c.3546C>T (p.Val1182=) rs16029
NM_001127222.2(CACNA1A):c.3618A>G (p.Glu1206=) rs201236364
NM_001127222.2(CACNA1A):c.3684G>A (p.Thr1228=) rs368048030
NM_001127222.2(CACNA1A):c.4221C>T (p.Asp1407=) rs201200430
NM_001127222.2(CACNA1A):c.4228A>G (p.Lys1410Glu) rs932772664
NM_001127222.2(CACNA1A):c.4632C>T (p.Thr1544=) rs150378053
NM_001127222.2(CACNA1A):c.5095G>A (p.Ala1699Thr) rs371273055
NM_001127222.2(CACNA1A):c.5170G>A (p.Asp1724Asn) rs371595464
NM_001127222.2(CACNA1A):c.5419G>A (p.Ala1807Thr) rs1555736565
NM_001127222.2(CACNA1A):c.5451C>T (p.Thr1817=) rs188863534
NM_001127222.2(CACNA1A):c.5650G>A (p.Val1884Ile) rs201836062
NM_001127222.2(CACNA1A):c.5652C>T (p.Val1884=) rs17846921
NM_001127222.2(CACNA1A):c.5685C>T (p.Thr1895=) rs757291476
NM_001127222.2(CACNA1A):c.5868C>T (p.Tyr1956=) rs371972266
NM_001127222.2(CACNA1A):c.5945G>A (p.Arg1982Gln) rs745775887
NM_001127222.2(CACNA1A):c.6001C>T (p.Pro2001Ser) rs751947412
NM_001127222.2(CACNA1A):c.6141G>A (p.Pro2047=) rs760682283
NM_001127222.2(CACNA1A):c.6257G>T (p.Gly2086Val) rs765051582
NM_001127222.2(CACNA1A):c.633T>C (p.Ser211=) rs202216404
NM_001127222.2(CACNA1A):c.6342C>G (p.Thr2114=) rs16049
NM_001127222.2(CACNA1A):c.6372A>G (p.Ser2124=) rs760994682
NM_001127222.2(CACNA1A):c.6378C>T (p.Ser2126=) rs16050
NM_001127222.2(CACNA1A):c.6398G>A (p.Arg2133Gln) rs779044548
NM_001127222.2(CACNA1A):c.6464G>T (p.Arg2155Leu) rs572722130
NM_001127222.2(CACNA1A):c.6494G>A (p.Arg2165His) rs727503832
NM_001127222.2(CACNA1A):c.6505C>T (p.Arg2169Cys) rs375354077
NM_001127222.2(CACNA1A):c.6613C>T (p.Arg2205Trp) rs780467849
NM_001127222.2(CACNA1A):c.6657T>C (p.His2219=) rs16051
NM_001127222.2(CACNA1A):c.6658_6659insACC (p.His2219dup) rs768950814
NM_001127222.2(CACNA1A):c.6694C>T (p.Arg2232Trp) rs751926317
NM_001127222.2(CACNA1A):c.6770C>T (p.Ala2257Val) rs755099305
NM_001127222.2(CACNA1A):c.796G>A (p.Gly266Ser) rs17846908
NM_023035.3(CACNA1A):c.3052G>A (p.Glu1018Lys) rs16024
NM_023035.3(CACNA1A):c.4186G>A (p.Val1396Met) rs794727411

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