ClinVar Miner

List of variants in gene CACNA1S reported as likely benign

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Gene type:
ClinVar version:
Total variants: 216
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HGVS dbSNP
NC_000001.11:g.201094164dup
NM_000069.2(CACNA1S):c.-110C>T rs529955487
NM_000069.2(CACNA1S):c.-140C>T rs547864807
NM_000069.2(CACNA1S):c.-213G>A rs536755317
NM_000069.3(CACNA1S):c.*104T>C rs186777514
NM_000069.3(CACNA1S):c.*310A>T rs190783634
NM_000069.3(CACNA1S):c.-60A>G rs145803564
NM_000069.3(CACNA1S):c.-68T>C rs140748567
NM_000069.3(CACNA1S):c.-83C>T rs116071603
NM_000069.3(CACNA1S):c.1005-154C>T
NM_000069.3(CACNA1S):c.1047C>T (p.Thr349=) rs542505383
NM_000069.3(CACNA1S):c.1143C>T (p.Phe381=) rs144883479
NM_000069.3(CACNA1S):c.1233-111G>A
NM_000069.3(CACNA1S):c.1233-40C>T
NM_000069.3(CACNA1S):c.1290G>A (p.Lys430=) rs1241905770
NM_000069.3(CACNA1S):c.1383C>G (p.Thr461=) rs144920422
NM_000069.3(CACNA1S):c.1393+11A>T rs753604199
NM_000069.3(CACNA1S):c.1393+16G>A rs374866886
NM_000069.3(CACNA1S):c.1393+18G>T rs199625342
NM_000069.3(CACNA1S):c.1395C>T (p.Asp465=) rs189129662
NM_000069.3(CACNA1S):c.1452C>T (p.Tyr484=) rs144206959
NM_000069.3(CACNA1S):c.1458G>A (p.Leu486=) rs528563981
NM_000069.3(CACNA1S):c.1467C>T (p.Arg489=) rs1384040104
NM_000069.3(CACNA1S):c.1493G>T (p.Arg498Leu) rs150590855
NM_000069.3(CACNA1S):c.1506C>T (p.Phe502=) rs141808465
NM_000069.3(CACNA1S):c.152+17G>A rs113558244
NM_000069.3(CACNA1S):c.1547C>T (p.Ser516Leu) rs140662085
NM_000069.3(CACNA1S):c.1548G>A (p.Ser516=) rs16847669
NM_000069.3(CACNA1S):c.1563C>A (p.Pro521=) rs775975526
NM_000069.3(CACNA1S):c.159C>T (p.Phe53=) rs199720439
NM_000069.3(CACNA1S):c.1611G>A (p.Lys537=) rs765888271
NM_000069.3(CACNA1S):c.1619+10G>A rs374195664
NM_000069.3(CACNA1S):c.1619+15C>T rs771698501
NM_000069.3(CACNA1S):c.1619+299C>A
NM_000069.3(CACNA1S):c.1629G>T (p.Thr543=) rs143999390
NM_000069.3(CACNA1S):c.165G>A (p.Thr55=) rs150520884
NM_000069.3(CACNA1S):c.1670G>A (p.Arg557His) rs4915212
NM_000069.3(CACNA1S):c.1704C>A (p.Leu568=) rs201748367
NM_000069.3(CACNA1S):c.1711G>A (p.Val571Ile) rs114191482
NM_000069.3(CACNA1S):c.1780C>T (p.Arg594Cys) rs200165212
NM_000069.3(CACNA1S):c.1813A>G (p.Ile605Val) rs550246898
NM_000069.3(CACNA1S):c.1817G>A (p.Ser606Asn) rs142356235
NM_000069.3(CACNA1S):c.1845C>T (p.Asp615=) rs200091030
NM_000069.3(CACNA1S):c.1881C>T (p.Tyr627=) rs145689664
NM_000069.3(CACNA1S):c.1884C>G (p.Gly628=) rs200743095
NM_000069.3(CACNA1S):c.1885G>A (p.Gly629Arg) rs147888089
NM_000069.3(CACNA1S):c.1890G>A (p.Pro630=) rs141717649
NM_000069.3(CACNA1S):c.1903A>G (p.Met635Val) rs201784750
NM_000069.3(CACNA1S):c.1935C>T (p.Phe645=) rs550584336
NM_000069.3(CACNA1S):c.1948+10C>G rs201173419
NM_000069.3(CACNA1S):c.1948+10C>T rs201173419
NM_000069.3(CACNA1S):c.1948+13G>C rs538625530
NM_000069.3(CACNA1S):c.1948+18G>A rs113175669
NM_000069.3(CACNA1S):c.1948+19G>A rs886038222
NM_000069.3(CACNA1S):c.1949-6G>A rs373698107
NM_000069.3(CACNA1S):c.1949-7C>T rs368564115
NM_000069.3(CACNA1S):c.1995C>T (p.Ala665=) rs16847664
NM_000069.3(CACNA1S):c.2047C>T (p.Arg683Cys) rs35708442
NM_000069.3(CACNA1S):c.2063+253C>T
NM_000069.3(CACNA1S):c.2063+7G>T rs79984703
NM_000069.3(CACNA1S):c.206C>G (p.Ala69Gly) rs12406479
NM_000069.3(CACNA1S):c.2100G>A (p.Thr700=) rs774160640
NM_000069.3(CACNA1S):c.2142C>A (p.Ile714=) rs1057524027
NM_000069.3(CACNA1S):c.2148C>T (p.Thr716=) rs747075757
NM_000069.3(CACNA1S):c.2187C>T (p.Val729=) rs770255183
NM_000069.3(CACNA1S):c.2289G>A (p.Glu763=) rs1427158400
NM_000069.3(CACNA1S):c.2310C>T (p.Ala770=) rs113659687
NM_000069.3(CACNA1S):c.2331C>T (p.Ser777=) rs749013125
NM_000069.3(CACNA1S):c.2361-10G>A rs533238983
NM_000069.3(CACNA1S):c.2361-11C>T rs376279583
NM_000069.3(CACNA1S):c.2361-13C>T rs2182117
NM_000069.3(CACNA1S):c.2361-269A>C
NM_000069.3(CACNA1S):c.2376T>C (p.Cys792=) rs528604695
NM_000069.3(CACNA1S):c.2439C>T (p.Ser813=) rs376863448
NM_000069.3(CACNA1S):c.2440G>A (p.Ala814Thr) rs139956524
NM_000069.3(CACNA1S):c.2454G>A (p.Ala818=) rs141619541
NM_000069.3(CACNA1S):c.2480T>C (p.Met827Thr) rs61238538
NM_000069.3(CACNA1S):c.2490+5C>T
NM_000069.3(CACNA1S):c.2505T>C (p.Phe835=) rs1057524226
NM_000069.3(CACNA1S):c.252C>T (p.Leu84=) rs112868209
NM_000069.3(CACNA1S):c.2551-192A>G
NM_000069.3(CACNA1S):c.2551-286C>G
NM_000069.3(CACNA1S):c.2551-76C>T
NM_000069.3(CACNA1S):c.2556G>A (p.Thr852=) rs1160627876
NM_000069.3(CACNA1S):c.2562C>T (p.Tyr854=) rs373510147
NM_000069.3(CACNA1S):c.259-43C>T
NM_000069.3(CACNA1S):c.2594G>A (p.Arg865His) rs545411173
NM_000069.3(CACNA1S):c.2601C>T (p.Tyr867=) rs34374418
NM_000069.3(CACNA1S):c.2613G>T (p.Leu871=) rs770064983
NM_000069.3(CACNA1S):c.2657+10G>A rs371339601
NM_000069.3(CACNA1S):c.2657+9C>T rs375784883
NM_000069.3(CACNA1S):c.2658-9G>A rs367580345
NM_000069.3(CACNA1S):c.2658G>A (p.Glu886=) rs140924492
NM_000069.3(CACNA1S):c.2694G>T (p.Val898=) rs1553250516
NM_000069.3(CACNA1S):c.2745+14C>T rs74138824
NM_000069.3(CACNA1S):c.2746-123del
NM_000069.3(CACNA1S):c.2746-14C>T rs113792034
NM_000069.3(CACNA1S):c.2754G>A (p.Val918=) rs150708636
NM_000069.3(CACNA1S):c.2784C>T (p.Ile928=) rs143483718
NM_000069.3(CACNA1S):c.2835C>T (p.Ile945=) rs753072795
NM_000069.3(CACNA1S):c.2854-33CCTC[6] rs747117832
NM_000069.3(CACNA1S):c.2854-89C>G
NM_000069.3(CACNA1S):c.2906+17G>A rs202089480
NM_000069.3(CACNA1S):c.2907-16G>A
NM_000069.3(CACNA1S):c.2919C>T (p.Tyr973=) rs751043315
NM_000069.3(CACNA1S):c.2952G>A (p.Glu984=) rs1553250091
NM_000069.3(CACNA1S):c.2957G>A (p.Arg986His) rs140453525
NM_000069.3(CACNA1S):c.2960A>G (p.His987Arg) rs201174511
NM_000069.3(CACNA1S):c.2992G>A (p.Asp998Asn) rs116347156
NM_000069.3(CACNA1S):c.3053+13T>C rs41267501
NM_000069.3(CACNA1S):c.3129C>A (p.Ile1043=) rs774801845
NM_000069.3(CACNA1S):c.3144C>T (p.Tyr1048=) rs1468895414
NM_000069.3(CACNA1S):c.315C>T (p.Ile105=) rs756365041
NM_000069.3(CACNA1S):c.3177C>T (p.Ile1059=) rs1553249999
NM_000069.3(CACNA1S):c.3189C>T (p.Phe1063=) rs150020550
NM_000069.3(CACNA1S):c.324C>T (p.Tyr108=) rs200487405
NM_000069.3(CACNA1S):c.3261A>G (p.Gln1087=) rs34515088
NM_000069.3(CACNA1S):c.3287G>A (p.Arg1096His) rs142102094
NM_000069.3(CACNA1S):c.3331G>A (p.Val1111Met) rs200558548
NM_000069.3(CACNA1S):c.3414+3A>T rs892742196
NM_000069.3(CACNA1S):c.3425A>C (p.Gln1142Pro) rs139373152
NM_000069.3(CACNA1S):c.345C>T (p.Asp115=) rs144218745
NM_000069.3(CACNA1S):c.3525+7del rs759199210
NM_000069.3(CACNA1S):c.3526-197A>G
NM_000069.3(CACNA1S):c.3606C>T (p.Ile1202=) rs189797100
NM_000069.3(CACNA1S):c.3609+11G>A
NM_000069.3(CACNA1S):c.3610-167A>C
NM_000069.3(CACNA1S):c.3616C>T (p.Leu1206=) rs148105111
NM_000069.3(CACNA1S):c.3628G>A (p.Gly1210Arg) rs148870919
NM_000069.3(CACNA1S):c.3657C>T (p.Cys1219=) rs376781102
NM_000069.3(CACNA1S):c.3664G>A (p.Val1222Ile) rs202240111
NM_000069.3(CACNA1S):c.3667-4G>A rs762497596
NM_000069.3(CACNA1S):c.369T>C (p.Asn123=) rs148680317
NM_000069.3(CACNA1S):c.373C>T (p.Leu125=) rs1464376202
NM_000069.3(CACNA1S):c.3777G>A (p.Thr1259=) rs147646714
NM_000069.3(CACNA1S):c.3795+3G>A rs191758096
NM_000069.3(CACNA1S):c.3796-11C>T rs369565379
NM_000069.3(CACNA1S):c.3796-13G>A rs374572342
NM_000069.3(CACNA1S):c.3796-9G>A rs142184434
NM_000069.3(CACNA1S):c.3807C>T (p.Tyr1269=) rs990173222
NM_000069.3(CACNA1S):c.3811G>A (p.Ala1271Thr) rs138144724
NM_000069.3(CACNA1S):c.383C>G (p.Thr128Ser) rs139491817
NM_000069.3(CACNA1S):c.3862-251T>A
NM_000069.3(CACNA1S):c.3890G>A (p.Gly1297Glu) rs749856222
NM_000069.3(CACNA1S):c.394C>A (p.Leu132Met) rs377030324
NM_000069.3(CACNA1S):c.3953+14G>A rs201077181
NM_000069.3(CACNA1S):c.3953+16C>T rs201874906
NM_000069.3(CACNA1S):c.3953+6C>T rs115707724
NM_000069.3(CACNA1S):c.3953+7G>A rs141071505
NM_000069.3(CACNA1S):c.398+3G>A rs764710968
NM_000069.3(CACNA1S):c.399-145T>A
NM_000069.3(CACNA1S):c.399-14C>T rs116534514
NM_000069.3(CACNA1S):c.4026G>A (p.Ser1342=) rs757432785
NM_000069.3(CACNA1S):c.4053A>G (p.Thr1351=) rs13376324
NM_000069.3(CACNA1S):c.4060A>T (p.Thr1354Ser) rs145910245
NM_000069.3(CACNA1S):c.4114-3C>T rs182873269
NM_000069.3(CACNA1S):c.4114-8T>C rs373675720
NM_000069.3(CACNA1S):c.4176C>G (p.Ser1392=) rs200935259
NM_000069.3(CACNA1S):c.4194C>T (p.His1398=) rs368919048
NM_000069.3(CACNA1S):c.4339-14G>A
NM_000069.3(CACNA1S):c.4350C>A (p.Gly1450=) rs761794209
NM_000069.3(CACNA1S):c.4350C>G (p.Gly1450=) rs761794209
NM_000069.3(CACNA1S):c.4377C>T (p.Gly1459=) rs138189035
NM_000069.3(CACNA1S):c.4425C>T (p.Leu1475=) rs1553248697
NM_000069.3(CACNA1S):c.4462G>A (p.Glu1488Lys) rs533353353
NM_000069.3(CACNA1S):c.4572C>T (p.Tyr1524=) rs765581827
NM_000069.3(CACNA1S):c.460A>G (p.Ser154Gly) rs761768992
NM_000069.3(CACNA1S):c.4668+19T>C rs140742077
NM_000069.3(CACNA1S):c.4686T>C (p.Ile1562=) rs138423302
NM_000069.3(CACNA1S):c.4718C>T (p.Thr1573Met) rs183195890
NM_000069.3(CACNA1S):c.4747G>A (p.Glu1583Lys) rs148273582
NM_000069.3(CACNA1S):c.4752G>A (p.Leu1584=) rs763069723
NM_000069.3(CACNA1S):c.4882C>T (p.Leu1628Phe) rs200848930
NM_000069.3(CACNA1S):c.4954C>T (p.Arg1652Cys) rs143933255
NM_000069.3(CACNA1S):c.4962C>T (p.Asn1654=) rs370339547
NM_000069.3(CACNA1S):c.4995C>T (p.Asn1665=) rs183440052
NM_000069.3(CACNA1S):c.4996G>A (p.Ala1666Thr) rs145340252
NM_000069.3(CACNA1S):c.5048+8C>T
NM_000069.3(CACNA1S):c.5049-2A>G rs148989517
NM_000069.3(CACNA1S):c.5079G>A (p.Glu1693=) rs776228804
NM_000069.3(CACNA1S):c.5135-4A>G rs1388042700
NM_000069.3(CACNA1S):c.5135-7C>T rs886038223
NM_000069.3(CACNA1S):c.5199A>G (p.Arg1733=) rs1490186766
NM_000069.3(CACNA1S):c.5227-20C>T rs377205612
NM_000069.3(CACNA1S):c.5238G>A (p.Val1746=) rs374660431
NM_000069.3(CACNA1S):c.5299C>A (p.Pro1767Thr) rs200434921
NM_000069.3(CACNA1S):c.530C>T (p.Ser177Leu) rs141204958
NM_000069.3(CACNA1S):c.5356C>T (p.Leu1786=) rs371876697
NM_000069.3(CACNA1S):c.5370+10G>A rs368138384
NM_000069.3(CACNA1S):c.5371-19C>T rs201064986
NM_000069.3(CACNA1S):c.5388C>T (p.Gly1796=) rs1553247345
NM_000069.3(CACNA1S):c.540T>C (p.Pro180=) rs138245131
NM_000069.3(CACNA1S):c.541+7G>A rs1218931598
NM_000069.3(CACNA1S):c.541+9C>T rs375541532
NM_000069.3(CACNA1S):c.5490_5497del (p.Leu1832fs) rs554596425
NM_000069.3(CACNA1S):c.5510A>C (p.Glu1837Ala) rs200765341
NM_000069.3(CACNA1S):c.5515C>T (p.Pro1839Ser) rs149547196
NM_000069.3(CACNA1S):c.5554G>A (p.Gly1852Arg) rs540721779
NM_000069.3(CACNA1S):c.5570G>A (p.Ser1857Asn) rs72749169
NM_000069.3(CACNA1S):c.5574C>T (p.Leu1858=) rs756090938
NM_000069.3(CACNA1S):c.5592C>T (p.Ser1864=) rs751405561
NM_000069.3(CACNA1S):c.588C>G (p.Leu196=) rs746654928
NM_000069.3(CACNA1S):c.598G>A (p.Ala200Thr) rs527702358
NM_000069.3(CACNA1S):c.639C>T (p.Ile213=) rs1229722414
NM_000069.3(CACNA1S):c.708G>C (p.Thr236=) rs754213830
NM_000069.3(CACNA1S):c.743C>T (p.Thr248Met) rs200665694
NM_000069.3(CACNA1S):c.773G>A (p.Gly258Asp) rs35534614
NM_000069.3(CACNA1S):c.773G>T (p.Gly258Val) rs35534614
NM_000069.3(CACNA1S):c.789C>A (p.Gly263=) rs368173398
NM_000069.3(CACNA1S):c.858C>T (p.Tyr286=) rs61734621
NM_000069.3(CACNA1S):c.870C>T (p.Thr290=) rs780305979
NM_000069.3(CACNA1S):c.895T>C (p.Tyr299His) rs35856559
NM_000069.3(CACNA1S):c.900+14C>T rs377170574
NM_000069.3(CACNA1S):c.900+9G>A rs1454687459
NM_000069.3(CACNA1S):c.915C>T (p.Ile305=) rs376517944
NM_000069.3(CACNA1S):c.984G>T (p.Leu328=) rs367685667

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