ClinVar Miner

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

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Gene type:
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Total variants: 76
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HGVS dbSNP
NM_000069.2(CACNA1S):c.*104T>C rs186777514
NM_000069.2(CACNA1S):c.*310A>T rs190783634
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_000069.2(CACNA1S):c.-60A>G rs145803564
NM_000069.2(CACNA1S):c.-68T>C rs140748567
NM_000069.2(CACNA1S):c.-83C>T rs116071603
NM_000069.2(CACNA1S):c.1143C>T (p.Phe381=) rs144883479
NM_000069.2(CACNA1S):c.1395C>T (p.Asp465=) rs189129662
NM_000069.2(CACNA1S):c.1452C>T (p.Tyr484=) rs144206959
NM_000069.2(CACNA1S):c.1458G>A (p.Leu486=) rs528563981
NM_000069.2(CACNA1S):c.1493G>T (p.Arg498Leu) rs150590855
NM_000069.2(CACNA1S):c.1547C>T (p.Ser516Leu) rs140662085
NM_000069.2(CACNA1S):c.1548G>A (p.Ser516=) rs16847669
NM_000069.2(CACNA1S):c.1670G>A (p.Arg557His) rs4915212
NM_000069.2(CACNA1S):c.1711G>A (p.Val571Ile) rs114191482
NM_000069.2(CACNA1S):c.1780C>T (p.Arg594Cys) rs200165212
NM_000069.2(CACNA1S):c.1813A>G (p.Ile605Val) rs550246898
NM_000069.2(CACNA1S):c.1817G>A (p.Ser606Asn) rs142356235
NM_000069.2(CACNA1S):c.1881C>T (p.Tyr627=) rs145689664
NM_000069.2(CACNA1S):c.1885G>A (p.Gly629Arg) rs147888089
NM_000069.2(CACNA1S):c.1903A>G (p.Met635Val) rs201784750
NM_000069.2(CACNA1S):c.1948+10C>G rs201173419
NM_000069.2(CACNA1S):c.1949-7C>T rs368564115
NM_000069.2(CACNA1S):c.1995C>T (p.Ala665=) rs16847664
NM_000069.2(CACNA1S):c.2047C>T (p.Arg683Cys) rs35708442
NM_000069.2(CACNA1S):c.2063+7G>T rs79984703
NM_000069.2(CACNA1S):c.206C>G (p.Ala69Gly) rs12406479
NM_000069.2(CACNA1S):c.2100G>A (p.Thr700=) rs774160640
NM_000069.2(CACNA1S):c.2361-13C>T rs2182117
NM_000069.2(CACNA1S):c.2439C>T (p.Ser813=) rs376863448
NM_000069.2(CACNA1S):c.2440G>A (p.Ala814Thr) rs139956524
NM_000069.2(CACNA1S):c.2454G>A (p.Ala818=) rs141619541
NM_000069.2(CACNA1S):c.2480T>C (p.Met827Thr) rs61238538
NM_000069.2(CACNA1S):c.252C>T (p.Leu84=) rs112868209
NM_000069.2(CACNA1S):c.2594G>A (p.Arg865His) rs545411173
NM_000069.2(CACNA1S):c.2601C>T (p.Tyr867=) rs34374418
NM_000069.2(CACNA1S):c.2745+14C>T rs74138824
NM_000069.2(CACNA1S):c.2746-14C>T rs113792034
NM_000069.2(CACNA1S):c.2784C>T (p.Ile928=) rs143483718
NM_000069.2(CACNA1S):c.2957G>A (p.Arg986His) rs140453525
NM_000069.2(CACNA1S):c.2992G>A (p.Asp998Asn) rs116347156
NM_000069.2(CACNA1S):c.3053+13T>C rs41267501
NM_000069.2(CACNA1S):c.3189C>T (p.Phe1063=) rs150020550
NM_000069.2(CACNA1S):c.3261A>G (p.Gln1087=) rs34515088
NM_000069.2(CACNA1S):c.3331G>A (p.Val1111Met) rs200558548
NM_000069.2(CACNA1S):c.345C>T (p.Asp115=) rs144218745
NM_000069.2(CACNA1S):c.3606C>T (p.Ile1202=) rs189797100
NM_000069.2(CACNA1S):c.3795+3G>A rs191758096
NM_000069.2(CACNA1S):c.3796-11C>T rs369565379
NM_000069.2(CACNA1S):c.3796-9G>A rs142184434
NM_000069.2(CACNA1S):c.3811G>A (p.Ala1271Thr) rs138144724
NM_000069.2(CACNA1S):c.383C>G (p.Thr128Ser) rs139491817
NM_000069.2(CACNA1S):c.394C>A (p.Leu132Met) rs377030324
NM_000069.2(CACNA1S):c.3953+6C>T rs115707724
NM_000069.2(CACNA1S):c.3953+7G>A rs141071505
NM_000069.2(CACNA1S):c.399-14C>T rs116534514
NM_000069.2(CACNA1S):c.4053A>G (p.Thr1351=) rs13376324
NM_000069.2(CACNA1S):c.4060A>T (p.Thr1354Ser) rs145910245
NM_000069.2(CACNA1S):c.4350C>G (p.Gly1450=) rs761794209
NM_000069.2(CACNA1S):c.4462G>A (p.Glu1488Lys) rs533353353
NM_000069.2(CACNA1S):c.4686T>C (p.Ile1562=) rs138423302
NM_000069.2(CACNA1S):c.4882C>T (p.Leu1628Phe) rs200848930
NM_000069.2(CACNA1S):c.4954C>T (p.Arg1652Cys) rs143933255
NM_000069.2(CACNA1S):c.530C>T (p.Ser177Leu) rs141204958
NM_000069.2(CACNA1S):c.541+9C>T rs375541532
NM_000069.2(CACNA1S):c.5510A>C (p.Glu1837Ala) rs200765341
NM_000069.2(CACNA1S):c.5515C>T (p.Pro1839Ser) rs149547196
NM_000069.2(CACNA1S):c.5554G>A (p.Gly1852Arg) rs540721779
NM_000069.2(CACNA1S):c.5570G>A (p.Ser1857Asn) rs72749169
NM_000069.2(CACNA1S):c.598G>A (p.Ala200Thr) rs527702358
NM_000069.2(CACNA1S):c.743C>T (p.Thr248Met) rs200665694
NM_000069.2(CACNA1S):c.773G>A (p.Gly258Asp) rs35534614
NM_000069.2(CACNA1S):c.858C>T (p.Tyr286=) rs61734621
NM_000069.2(CACNA1S):c.895T>C (p.Tyr299His) rs35856559

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