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_000068.3(CACNA1A):c.1785-6C>T rs201350764
NM_000068.3(CACNA1A):c.699A>G (p.Leu233=) rs749587119
NM_001127221.1(CACNA1A):c.1067T>C (p.Leu356Pro)
NM_001127221.1(CACNA1A):c.1083-4C>G rs201056216
NM_001127221.1(CACNA1A):c.1170T>A (p.Asn390Lys) rs768768744
NM_001127221.1(CACNA1A):c.1182G>A (p.Glu394=) rs2248069
NM_001127221.1(CACNA1A):c.1233G>A (p.Gly411=) rs764453012
NM_001127221.1(CACNA1A):c.1323T>C (p.Asp441=) rs1555766555
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.1392G>A (p.Glu464=) rs886043657
NM_001127221.1(CACNA1A):c.1398G>A (p.Ser466=) rs374307014
NM_001127221.1(CACNA1A):c.1558+10A>C rs794727022
NM_001127221.1(CACNA1A):c.1575T>A (p.Ile525=) rs16010
NM_001127221.1(CACNA1A):c.159G>T (p.Ala53=) rs767892925
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.1671+9T>C rs794727054
NM_001127221.1(CACNA1A):c.2133C>G (p.Ala711=) rs16017
NM_001127221.1(CACNA1A):c.2134A>T (p.Ile712Phe)
NM_001127221.1(CACNA1A):c.2484G>A (p.Pro828=)
NM_001127221.1(CACNA1A):c.2679C>T (p.Ser893=) rs780515850
NM_001127221.1(CACNA1A):c.2681G>A (p.Arg894Gln) rs374664760
NM_001127221.1(CACNA1A):c.2690C>G (p.Pro897Arg) rs121908242
NM_001127221.1(CACNA1A):c.2740C>T (p.Pro914Ser) rs16020
NM_001127221.1(CACNA1A):c.2740_2742delCCCinsTCT (p.Pro914Ser) rs886043758
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.2855C>T (p.Ala952Val) rs1442995931
NM_001127221.1(CACNA1A):c.2870G>T (p.Arg957Leu) rs551380805
NM_001127221.1(CACNA1A):c.2978A>T (p.Glu993Val) rs16023
NM_001127221.1(CACNA1A):c.2983_2988dupGAGGGC (p.Gly996_Pro997insGluGly) rs764399373
NM_001127221.1(CACNA1A):c.3019C>T (p.Arg1007Trp)
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.3093-5C>T rs976595665
NM_001127221.1(CACNA1A):c.3095A>G (p.Glu1032Gly) rs886043930
NM_001127221.1(CACNA1A):c.3240C>T (p.Ala1080=) rs16026
NM_001127221.1(CACNA1A):c.330G>A (p.Ala110=) rs375486960
NM_001127221.1(CACNA1A):c.3312C>T (p.Pro1104=) rs374749004
NM_001127221.1(CACNA1A):c.3313G>A (p.Gly1105Ser) rs16027
NM_001127221.1(CACNA1A):c.3358G>A (p.Ala1120Thr) rs199745070
NM_001127221.1(CACNA1A):c.3412C>G (p.Pro1138Ala) rs199793367
NM_001127221.1(CACNA1A):c.3439G>A (p.Val1147Ile) rs376365775
NM_001127221.1(CACNA1A):c.3460C>G (p.Gln1154Glu) rs201612257
NM_001127221.1(CACNA1A):c.3528A>C (p.Pro1176=) rs886044439
NM_001127221.1(CACNA1A):c.3534C>A (p.Pro1178=) rs184723350
NM_001127221.1(CACNA1A):c.3534C>G (p.Pro1178=) rs184723350
NM_001127221.1(CACNA1A):c.3549C>T (p.Val1183=) rs16029
NM_001127221.1(CACNA1A):c.3607_3609delAAG (p.Lys1203del) rs772989979
NM_001127221.1(CACNA1A):c.3618_3620delGGA (p.Glu1207del) rs750826355
NM_001127221.1(CACNA1A):c.3621A>G (p.Glu1207=) rs201236364
NM_001127221.1(CACNA1A):c.3640G>A (p.Gly1214Ser) rs767000559
NM_001127221.1(CACNA1A):c.3687G>A (p.Thr1229=) rs368048030
NM_001127221.1(CACNA1A):c.3825+1G>A rs794727355
NM_001127221.1(CACNA1A):c.4092+3G>A rs781595676
NM_001127221.1(CACNA1A):c.4177G>A (p.Val1393Met) rs794727411
NM_001127221.1(CACNA1A):c.4224C>T (p.Asp1408=) rs201200430
NM_001127221.1(CACNA1A):c.4231A>G (p.Lys1411Glu) rs932772664
NM_001127221.1(CACNA1A):c.4293G>T (p.Ala1431=) rs555959123
NM_001127221.1(CACNA1A):c.4635C>T (p.Thr1545=) rs150378053
NM_001127221.1(CACNA1A):c.5017C>T (p.Arg1673Cys) rs794727558
NM_001127221.1(CACNA1A):c.504C>G (p.Gly168=) rs1555789105
NM_001127221.1(CACNA1A):c.5051C>T (p.Thr1684Ile)
NM_001127221.1(CACNA1A):c.5098G>A (p.Ala1700Thr) rs371273055
NM_001127221.1(CACNA1A):c.5136+10G>A rs369033909
NM_001127221.1(CACNA1A):c.5173G>A (p.Asp1725Asn) rs371595464
NM_001127221.1(CACNA1A):c.5319G>A (p.Lys1773=) rs886043622
NM_001127221.1(CACNA1A):c.5422G>A (p.Ala1808Thr) rs1555736565
NM_001127221.1(CACNA1A):c.5454C>T (p.Thr1818=) rs188863534
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.5735-6T>C rs16043
NM_001127221.1(CACNA1A):c.5871C>T (p.Tyr1957=) rs371972266
NM_001127221.1(CACNA1A):c.5900G>A (p.Arg1967Gln) rs199886234
NM_001127221.1(CACNA1A):c.592C>G (p.Arg198Gly) rs886042230
NM_001127221.1(CACNA1A):c.5948G>A (p.Arg1983Gln) rs745775887
NM_001127221.1(CACNA1A):c.6004C>T (p.Pro2002Ser) rs751947412
NM_001127221.1(CACNA1A):c.6069C>T (p.Ser2023=) rs886043571
NM_001127221.1(CACNA1A):c.6144G>A (p.Pro2048=)
NM_001127221.1(CACNA1A):c.6260G>T (p.Gly2087Val) rs765051582
NM_001127221.1(CACNA1A):c.6308G>A (p.Arg2103Lys) rs866974416
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.6375A>G (p.Ser2125=) rs760994682
NM_001127221.1(CACNA1A):c.6381C>T (p.Ser2127=) rs16050
NM_001127221.1(CACNA1A):c.6401G>A (p.Arg2134Gln) rs779044548
NM_001127221.1(CACNA1A):c.6467G>T (p.Arg2156Leu) rs572722130
NM_001127221.1(CACNA1A):c.6497G>A (p.Arg2166His) rs727503832
NM_001127221.1(CACNA1A):c.6508C>T (p.Arg2170Cys) rs375354077
NM_001127221.1(CACNA1A):c.6616C>T (p.Arg2206Trp) rs780467849
NM_001127221.1(CACNA1A):c.6651_6659delCCACCACCA (p.His2218_His2220del) rs759331923
NM_001127221.1(CACNA1A):c.6656_6661delACCATC (p.His2219_His2220del) rs774721955
NM_001127221.1(CACNA1A):c.6657_6659dupCCA (p.His2220_Pro2221insHis) rs759331923
NM_001127221.1(CACNA1A):c.6660T>C (p.His2220=) rs16051
NM_001127221.1(CACNA1A):c.6660delTinsCCAC (p.His2220_Pro2221insHis)
NM_001127221.1(CACNA1A):c.6661_6662insACC (p.His2220_Pro2221insHis) rs768950814
NM_001127221.1(CACNA1A):c.6661_6662insACCACCACC (p.His2220_Pro2221insHisHisHis) rs768950814
NM_001127221.1(CACNA1A):c.6697C>T (p.Arg2233Trp) rs751926317
NM_001127221.1(CACNA1A):c.6740C>T (p.Ser2247Phe) rs768312851
NM_001127221.1(CACNA1A):c.6773C>T (p.Ala2258Val) rs755099305
NM_001127221.1(CACNA1A):c.796G>A (p.Gly266Ser) rs17846908
NM_001127221.1(CACNA1A):c.978+9T>C rs111366222
NM_001127222.1(CACNA1A):c.1518T>C (p.Val506=) rs16009

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