ClinVar Miner

List of variants in gene CACNA1S reported by Illumina Clinical Services Laboratory,Illumina

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Gene type:
ClinVar version:
Total variants: 157
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HGVS dbSNP
NM_000069.2(CACNA1S):c.-110C>T rs529955487
NM_000069.2(CACNA1S):c.-140C>T rs547864807
NM_000069.2(CACNA1S):c.-147C>T rs886045805
NM_000069.2(CACNA1S):c.-206C>T rs886045806
NM_000069.2(CACNA1S):c.-213G>A rs536755317
NM_000069.2(CACNA1S):c.-231A>G rs4506487
NM_000069.2(CACNA1S):c.695-6delC rs748832613
NM_000069.3(CACNA1S):c.*104T>C rs186777514
NM_000069.3(CACNA1S):c.*109G>T rs886045793
NM_000069.3(CACNA1S):c.*163G>A rs200126670
NM_000069.3(CACNA1S):c.*183C>T rs886045792
NM_000069.3(CACNA1S):c.*260T>A rs886045791
NM_000069.3(CACNA1S):c.*310A>T rs190783634
NM_000069.3(CACNA1S):c.*87G>A rs577214090
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.1143C>T (p.Phe381=) rs144883479
NM_000069.3(CACNA1S):c.1301T>C (p.Phe434Ser) rs146136274
NM_000069.3(CACNA1S):c.1352C>T (p.Ser451Leu) rs35521793
NM_000069.3(CACNA1S):c.1368G>A (p.Gln456=) rs767568799
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.1393+7C>T rs3767512
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.1470G>A (p.Gln490=) rs373712202
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+14C>T rs201285556
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.1551T>C (p.Gly517=) rs4915477
NM_000069.3(CACNA1S):c.1564C>T (p.Leu522=) rs4915476
NM_000069.3(CACNA1S):c.1628C>T (p.Thr543Met) rs777962341
NM_000069.3(CACNA1S):c.1629G>T (p.Thr543=) rs143999390
NM_000069.3(CACNA1S):c.1670G>A (p.Arg557His) rs4915212
NM_000069.3(CACNA1S):c.1678G>A (p.Ala560Thr) rs763794604
NM_000069.3(CACNA1S):c.1711G>A (p.Val571Ile) rs114191482
NM_000069.3(CACNA1S):c.1725C>T (p.Leu575=) rs886045800
NM_000069.3(CACNA1S):c.1745G>C (p.Gly582Ala) rs377459546
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.1828-5T>C rs1998721
NM_000069.3(CACNA1S):c.187G>T (p.Ala63Ser) rs886045804
NM_000069.3(CACNA1S):c.1881C>T (p.Tyr627=) rs145689664
NM_000069.3(CACNA1S):c.1885G>A (p.Gly629Arg) rs147888089
NM_000069.3(CACNA1S):c.1903A>G (p.Met635Val) rs201784750
NM_000069.3(CACNA1S):c.1945A>C (p.Asn649His) rs760246258
NM_000069.3(CACNA1S):c.1948+10C>G rs201173419
NM_000069.3(CACNA1S):c.1948+13G>C rs538625530
NM_000069.3(CACNA1S):c.1949-6G>A rs373698107
NM_000069.3(CACNA1S):c.1949-7C>T rs368564115
NM_000069.3(CACNA1S):c.196G>A (p.Val66Met) rs886045803
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+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.2361-11C>T rs376279583
NM_000069.3(CACNA1S):c.2361-13C>T rs2182117
NM_000069.3(CACNA1S):c.2403T>C (p.Phe801=) rs7415038
NM_000069.3(CACNA1S):c.2419C>T (p.Leu807Phe) rs773958053
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.252C>T (p.Leu84=) rs112868209
NM_000069.3(CACNA1S):c.2561A>C (p.Tyr854Ser) rs886045799
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.2673C>T (p.Ser891=) rs16847623
NM_000069.3(CACNA1S):c.2692G>A (p.Val898Met) rs551951002
NM_000069.3(CACNA1S):c.2745+14C>T rs74138824
NM_000069.3(CACNA1S):c.2746-14C>T rs113792034
NM_000069.3(CACNA1S):c.2748C>T (p.His916=) rs2297902
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.2877C>T (p.Asp959=) rs138328785
NM_000069.3(CACNA1S):c.2957G>A (p.Arg986His) rs140453525
NM_000069.3(CACNA1S):c.2979C>A (p.Ser993Arg) rs146497999
NM_000069.3(CACNA1S):c.2992G>A (p.Asp998Asn) rs116347156
NM_000069.3(CACNA1S):c.2994C>A (p.Asp998Glu) rs886045798
NM_000069.3(CACNA1S):c.3027G>A (p.Thr1009=) rs371818752
NM_000069.3(CACNA1S):c.3053+13T>C rs41267501
NM_000069.3(CACNA1S):c.3090C>T (p.Asp1030=) rs766639108
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.3331G>A (p.Val1111Met) rs200558548
NM_000069.3(CACNA1S):c.345C>T (p.Asp115=) rs144218745
NM_000069.3(CACNA1S):c.356G>C (p.Arg119Pro) rs749588662
NM_000069.3(CACNA1S):c.3606C>T (p.Ile1202=) rs189797100
NM_000069.3(CACNA1S):c.3628G>A (p.Gly1210Arg) rs148870919
NM_000069.3(CACNA1S):c.3662A>T (p.Asn1221Ile) rs760995210
NM_000069.3(CACNA1S):c.369T>C (p.Asn123=) rs148680317
NM_000069.3(CACNA1S):c.3795+3G>A rs191758096
NM_000069.3(CACNA1S):c.3796-11C>T rs369565379
NM_000069.3(CACNA1S):c.3796-14C>T rs377210987
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.3861+14G>T rs200654730
NM_000069.3(CACNA1S):c.3904C>T (p.Arg1302Trp) rs780390034
NM_000069.3(CACNA1S):c.394C>A (p.Leu132Met) rs377030324
NM_000069.3(CACNA1S):c.3953+6C>T rs115707724
NM_000069.3(CACNA1S):c.3953+7G>A rs141071505
NM_000069.3(CACNA1S):c.3970G>A (p.Ala1324Thr) rs886045797
NM_000069.3(CACNA1S):c.398+3G>A rs764710968
NM_000069.3(CACNA1S):c.399-14C>T rs116534514
NM_000069.3(CACNA1S):c.399-3T>C rs886045802
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.4061C>T (p.Thr1354Ile) rs200487546
NM_000069.3(CACNA1S):c.4113+7T>C rs6702590
NM_000069.3(CACNA1S):c.4243G>A (p.Gly1415Arg) rs886045796
NM_000069.3(CACNA1S):c.4346T>G (p.Val1449Gly) rs79011683
NM_000069.3(CACNA1S):c.4350C>G (p.Gly1450=) rs761794209
NM_000069.3(CACNA1S):c.4437G>A (p.Thr1479=) rs200538716
NM_000069.3(CACNA1S):c.4441+3G>A rs886045795
NM_000069.3(CACNA1S):c.4462G>A (p.Glu1488Lys) rs533353353
NM_000069.3(CACNA1S):c.4543+7G>A rs2297905
NM_000069.3(CACNA1S):c.4546G>C (p.Asp1516His) rs764330337
NM_000069.3(CACNA1S):c.4615C>T (p.Arg1539Cys) rs3850625
NM_000069.3(CACNA1S):c.4686T>C (p.Ile1562=) rs138423302
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.4776G>A (p.Ala1592=) rs752911523
NM_000069.3(CACNA1S):c.4818C>T (p.Gly1606=) rs146619460
NM_000069.3(CACNA1S):c.4860C>T (p.Pro1620=) rs41267497
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.4973G>A (p.Arg1658His) rs13374149
NM_000069.3(CACNA1S):c.5008T>A (p.Tyr1670Asn) rs146696748
NM_000069.3(CACNA1S):c.5020A>C (p.Asn1674His) rs886045794
NM_000069.3(CACNA1S):c.530C>T (p.Ser177Leu) rs141204958
NM_000069.3(CACNA1S):c.5399T>C (p.Leu1800Ser) rs12139527
NM_000069.3(CACNA1S):c.541+9C>T rs375541532
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.597C>T (p.Ile199=) rs2296383
NM_000069.3(CACNA1S):c.598G>A (p.Ala200Thr) rs527702358
NM_000069.3(CACNA1S):c.688G>A (p.Gly230Ser) rs754860600
NM_000069.3(CACNA1S):c.743C>T (p.Thr248Met) rs200665694
NM_000069.3(CACNA1S):c.772G>A (p.Gly258Ser) rs886045801
NM_000069.3(CACNA1S):c.773G>A (p.Gly258Asp) rs35534614
NM_000069.3(CACNA1S):c.858C>T (p.Tyr286=) rs61734621
NM_000069.3(CACNA1S):c.889G>A (p.Val297Ile) rs138205421
NM_000069.3(CACNA1S):c.895T>C (p.Tyr299His) rs35856559
NM_000069.3(CACNA1S):c.909T>C (p.Asp303=) rs760398733
NM_000069.3(CACNA1S):c.951C>T (p.Leu317=) rs773209639

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