ClinVar Miner

List of variants in gene CACNA1S reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 243
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HGVS dbSNP
NC_000001.11:g.201073349_201073351del
NC_000001.11:g.201074175del
NC_000001.11:g.201074718_201074719del
NC_000001.11:g.201094164dup
NC_000001.11:g.201112156del
NC_000001.11:g.201112649C>G
NC_000001.11:g.201112815C>G
NM_000069.2(CACNA1S):c.-231A>G rs4506487
NM_000069.2(CACNA1S):c.-476G>A rs2281845
NM_000069.3(CACNA1S):c.-4A>G rs200408018
NM_000069.3(CACNA1S):c.-83C>T rs116071603
NM_000069.3(CACNA1S):c.1004+205A>G
NM_000069.3(CACNA1S):c.1005-154C>T
NM_000069.3(CACNA1S):c.1047C>T (p.Thr349=) rs542505383
NM_000069.3(CACNA1S):c.1151-38C>A
NM_000069.3(CACNA1S):c.1166A>T (p.Asp389Val) rs148770452
NM_000069.3(CACNA1S):c.1233-111G>A
NM_000069.3(CACNA1S):c.1233-190C>T
NM_000069.3(CACNA1S):c.1233-293C>T
NM_000069.3(CACNA1S):c.1233-40C>T
NM_000069.3(CACNA1S):c.1256G>A (p.Arg419His) rs370861322
NM_000069.3(CACNA1S):c.1269G>A (p.Trp423Ter) rs1558075630
NM_000069.3(CACNA1S):c.1290G>A (p.Lys430=) rs1241905770
NM_000069.3(CACNA1S):c.1352C>T (p.Ser451Leu) rs35521793
NM_000069.3(CACNA1S):c.1369C>T (p.Pro457Ser) rs372374492
NM_000069.3(CACNA1S):c.1370C>T (p.Pro457Leu) rs1450678337
NM_000069.3(CACNA1S):c.1371T>G (p.Pro457=) rs12742170
NM_000069.3(CACNA1S):c.1373T>A (p.Leu458His) rs12742169
NM_000069.3(CACNA1S):c.1382C>A (p.Thr461Asn) rs143202536
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.1393+7C>T rs3767512
NM_000069.3(CACNA1S):c.1393+91A>G
NM_000069.3(CACNA1S):c.1395C>T (p.Asp465=) rs189129662
NM_000069.3(CACNA1S):c.1408G>T (p.Val470Leu) rs867624444
NM_000069.3(CACNA1S):c.1452C>T (p.Tyr484=) rs144206959
NM_000069.3(CACNA1S):c.1465C>T (p.Arg489Cys) rs138364213
NM_000069.3(CACNA1S):c.1467C>T (p.Arg489=) rs1384040104
NM_000069.3(CACNA1S):c.1491C>T (p.Asn497=) rs16847674
NM_000069.3(CACNA1S):c.1493G>T (p.Arg498Leu) rs150590855
NM_000069.3(CACNA1S):c.1515T>C (p.Cys505=) rs9427714
NM_000069.3(CACNA1S):c.152+17G>A rs113558244
NM_000069.3(CACNA1S):c.152+17G>C rs113558244
NM_000069.3(CACNA1S):c.152+299T>C
NM_000069.3(CACNA1S):c.152+56G>A
NM_000069.3(CACNA1S):c.153-166G>A
NM_000069.3(CACNA1S):c.153-193G>T
NM_000069.3(CACNA1S):c.153-321G>A
NM_000069.3(CACNA1S):c.153-61A>T
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.1564C>T (p.Leu522=) rs4915476
NM_000069.3(CACNA1S):c.1583G>A (p.Arg528His) rs80338777
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.1620-124A>C
NM_000069.3(CACNA1S):c.1620-133T>C
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.1711G>A (p.Val571Ile) rs114191482
NM_000069.3(CACNA1S):c.1817G>A (p.Ser606Asn) rs142356235
NM_000069.3(CACNA1S):c.1827+3A>G rs1057522801
NM_000069.3(CACNA1S):c.1828-5T>C rs1998721
NM_000069.3(CACNA1S):c.1882G>A (p.Gly628Ser) rs768445692
NM_000069.3(CACNA1S):c.1884C>G (p.Gly628=) rs200743095
NM_000069.3(CACNA1S):c.1903A>G (p.Met635Val) rs201784750
NM_000069.3(CACNA1S):c.1904T>A (p.Met635Lys) rs144590408
NM_000069.3(CACNA1S):c.1948+13G>C rs538625530
NM_000069.3(CACNA1S):c.1948+18G>A rs113175669
NM_000069.3(CACNA1S):c.1948+279G>A
NM_000069.3(CACNA1S):c.1949-6G>A rs373698107
NM_000069.3(CACNA1S):c.1995C>T (p.Ala665=) rs16847664
NM_000069.3(CACNA1S):c.2048G>A (p.Arg683His) rs141031133
NM_000069.3(CACNA1S):c.2063+253C>T
NM_000069.3(CACNA1S):c.2063+333G>A
NM_000069.3(CACNA1S):c.2063+7G>T rs79984703
NM_000069.3(CACNA1S):c.2064-213C>T
NM_000069.3(CACNA1S):c.206C>G (p.Ala69Gly) rs12406479
NM_000069.3(CACNA1S):c.208G>A (p.Val70Met) rs771706267
NM_000069.3(CACNA1S):c.2099C>T (p.Thr700Met) rs147112322
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.2157+59C>T
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.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.2365C>T (p.Arg789Cys) rs148895719
NM_000069.3(CACNA1S):c.2381G>A (p.Arg794His) rs760674518
NM_000069.3(CACNA1S):c.2403T>C (p.Phe801=) rs7415038
NM_000069.3(CACNA1S):c.2407A>G (p.Asn803Asp) rs561979536
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.2550+303A>G
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.258+199_258+200dup
NM_000069.3(CACNA1S):c.258+204C>T
NM_000069.3(CACNA1S):c.258+271T>C
NM_000069.3(CACNA1S):c.258+57G>A rs1325310
NM_000069.3(CACNA1S):c.2582G>C (p.Gly861Ala) rs369192794
NM_000069.3(CACNA1S):c.259-43C>T
NM_000069.3(CACNA1S):c.2601C>T (p.Tyr867=) rs34374418
NM_000069.3(CACNA1S):c.262A>G (p.Lys88Glu) rs140330831
NM_000069.3(CACNA1S):c.2657+10G>A rs371339601
NM_000069.3(CACNA1S):c.2657+9C>T rs375784883
NM_000069.3(CACNA1S):c.2658-163C>A
NM_000069.3(CACNA1S):c.2658-44T>A
NM_000069.3(CACNA1S):c.2658G>A (p.Glu886=) rs140924492
NM_000069.3(CACNA1S):c.2673C>T (p.Ser891=) rs16847623
NM_000069.3(CACNA1S):c.2707C>T (p.Arg903Ter) rs367983954
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.2746-16G>A rs531717137
NM_000069.3(CACNA1S):c.2748C>T (p.His916=) rs2297902
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.2907-16G>A
NM_000069.3(CACNA1S):c.2920G>A (p.Val974Met) rs757840865
NM_000069.3(CACNA1S):c.2957G>A (p.Arg986His) rs140453525
NM_000069.3(CACNA1S):c.2992G>A (p.Asp998Asn) rs116347156
NM_000069.3(CACNA1S):c.3026C>T (p.Thr1009Met) rs200224590
NM_000069.3(CACNA1S):c.3053+13T>C rs41267501
NM_000069.3(CACNA1S):c.3054-72C>T
NM_000069.3(CACNA1S):c.3129C>A (p.Ile1043=) rs774801845
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.3414+3A>T rs892742196
NM_000069.3(CACNA1S):c.345C>T (p.Asp115=) rs144218745
NM_000069.3(CACNA1S):c.3525+18C>T rs56021911
NM_000069.3(CACNA1S):c.3526-197A>G
NM_000069.3(CACNA1S):c.3526-232C>T
NM_000069.3(CACNA1S):c.3609+11G>A
NM_000069.3(CACNA1S):c.3610-167A>C
NM_000069.3(CACNA1S):c.3610-291C>G
NM_000069.3(CACNA1S):c.3628G>A (p.Gly1210Arg) rs148870919
NM_000069.3(CACNA1S):c.3667-319G>C
NM_000069.3(CACNA1S):c.3667-4G>A rs762497596
NM_000069.3(CACNA1S):c.369T>C (p.Asn123=) rs148680317
NM_000069.3(CACNA1S):c.3716G>A (p.Arg1239His) rs28930068
NM_000069.3(CACNA1S):c.3722T>C (p.Met1241Thr) rs756259956
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.3796-13G>A rs374572342
NM_000069.3(CACNA1S):c.3796-9G>A rs142184434
NM_000069.3(CACNA1S):c.3811G>A (p.Ala1271Thr) rs138144724
NM_000069.3(CACNA1S):c.3822C>T (p.Ile1274=) rs56183942
NM_000069.3(CACNA1S):c.383C>G (p.Thr128Ser) rs139491817
NM_000069.3(CACNA1S):c.3844G>T (p.Ala1282Ser) rs774300377
NM_000069.3(CACNA1S):c.3862-251T>A
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+66G>C
NM_000069.3(CACNA1S):c.3953+6C>T rs115707724
NM_000069.3(CACNA1S):c.3953+7G>A rs141071505
NM_000069.3(CACNA1S):c.3954-303A>C
NM_000069.3(CACNA1S):c.3954-89C>T
NM_000069.3(CACNA1S):c.398+149A>G
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.4038del (p.Glu1348fs) rs1553248947
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.4241+183G>A
NM_000069.3(CACNA1S):c.4243G>A (p.Gly1415Arg) rs886045796
NM_000069.3(CACNA1S):c.4339-14G>A
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.4441+22dup
NM_000069.3(CACNA1S):c.4522C>G (p.Gln1508Glu) rs970352258
NM_000069.3(CACNA1S):c.4543+7G>A rs2297905
NM_000069.3(CACNA1S):c.4572C>T (p.Tyr1524=) rs765581827
NM_000069.3(CACNA1S):c.4615C>T (p.Arg1539Cys) rs3850625
NM_000069.3(CACNA1S):c.4668+19T>C rs140742077
NM_000069.3(CACNA1S):c.4669-150C>T
NM_000069.3(CACNA1S):c.4797+120A>G
NM_000069.3(CACNA1S):c.4798-278G>A
NM_000069.3(CACNA1S):c.4810C>A (p.Leu1604Met) rs144059385
NM_000069.3(CACNA1S):c.481G>A (p.Val161Ile) rs138265497
NM_000069.3(CACNA1S):c.482T>C (p.Val161Ala) rs141521945
NM_000069.3(CACNA1S):c.4860C>T (p.Pro1620=) rs41267497
NM_000069.3(CACNA1S):c.4862T>C (p.Val1621Ala) rs1064796136
NM_000069.3(CACNA1S):c.4916A>T (p.Glu1639Val) rs146885451
NM_000069.3(CACNA1S):c.4954C>T (p.Arg1652Cys) rs143933255
NM_000069.3(CACNA1S):c.4973G>A (p.Arg1658His) rs13374149
NM_000069.3(CACNA1S):c.4996G>A (p.Ala1666Thr) rs145340252
NM_000069.3(CACNA1S):c.502C>T (p.Arg168Ter) rs201998231
NM_000069.3(CACNA1S):c.5048+162G>A
NM_000069.3(CACNA1S):c.5048+8C>T
NM_000069.3(CACNA1S):c.5049-145A>G
NM_000069.3(CACNA1S):c.5105G>A (p.Arg1702Gln) rs201310235
NM_000069.3(CACNA1S):c.5135-4A>G rs1388042700
NM_000069.3(CACNA1S):c.5135-56A>G
NM_000069.3(CACNA1S):c.5227-20C>T rs377205612
NM_000069.3(CACNA1S):c.5227-54T>C
NM_000069.3(CACNA1S):c.5248A>G (p.Met1750Val) rs771065920
NM_000069.3(CACNA1S):c.5370+10G>A rs368138384
NM_000069.3(CACNA1S):c.5371-19C>T rs201064986
NM_000069.3(CACNA1S):c.5399T>C (p.Leu1800Ser) rs12139527
NM_000069.3(CACNA1S):c.540T>C (p.Pro180=) rs138245131
NM_000069.3(CACNA1S):c.5462A>G (p.Glu1821Gly) rs1057524423
NM_000069.3(CACNA1S):c.5490_5497del (p.Leu1832fs) rs554596425
NM_000069.3(CACNA1S):c.5515C>T (p.Pro1839Ser) rs149547196
NM_000069.3(CACNA1S):c.5570G>A (p.Ser1857Asn) rs72749169
NM_000069.3(CACNA1S):c.5576A>G (p.Asp1859Gly) rs1057524424
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.597C>T (p.Ile199=) rs2296383
NM_000069.3(CACNA1S):c.619G>A (p.Val207Ile) rs767571919
NM_000069.3(CACNA1S):c.694+243G>A
NM_000069.3(CACNA1S):c.695-101A>G
NM_000069.3(CACNA1S):c.707C>A (p.Thr236Lys) rs767790285
NM_000069.3(CACNA1S):c.708G>C (p.Thr236=) rs754213830
NM_000069.3(CACNA1S):c.773G>A (p.Gly258Asp) 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.900G>A (p.Trp300Ter) rs148317787
NM_000069.3(CACNA1S):c.915C>T (p.Ile305=) rs376517944

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