ClinVar Miner

List of variants in gene CACNA1S reported as uncertain significance for Hypokalemic periodic paralysis

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Total variants: 61
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HGVS dbSNP
NM_000069.2(CACNA1S):c.-147C>T rs886045805
NM_000069.2(CACNA1S):c.-206C>T rs886045806
NM_000069.2(CACNA1S):c.695-6delC rs748832613
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.*87G>A rs577214090
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.1470G>A (p.Gln490=) rs373712202
NM_000069.3(CACNA1S):c.152+14C>T rs201285556
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.1678G>A (p.Ala560Thr) rs763794604
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.187G>T (p.Ala63Ser) rs886045804
NM_000069.3(CACNA1S):c.1945A>C (p.Asn649His) rs760246258
NM_000069.3(CACNA1S):c.1948+13G>C rs538625530
NM_000069.3(CACNA1S):c.1949-6G>A rs373698107
NM_000069.3(CACNA1S):c.196G>A (p.Val66Met) rs886045803
NM_000069.3(CACNA1S):c.2361-11C>T rs376279583
NM_000069.3(CACNA1S):c.2419C>T (p.Leu807Phe) rs773958053
NM_000069.3(CACNA1S):c.2561A>C (p.Tyr854Ser) rs886045799
NM_000069.3(CACNA1S):c.2692G>A (p.Val898Met) rs551951002
NM_000069.3(CACNA1S):c.2754G>A (p.Val918=) rs150708636
NM_000069.3(CACNA1S):c.2877C>T (p.Asp959=) rs138328785
NM_000069.3(CACNA1S):c.2979C>A (p.Ser993Arg) rs146497999
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.3090C>T (p.Asp1030=) rs766639108
NM_000069.3(CACNA1S):c.324C>T (p.Tyr108=) rs200487405
NM_000069.3(CACNA1S):c.3256C>T (p.Arg1086Cys) rs80338782
NM_000069.3(CACNA1S):c.356G>C (p.Arg119Pro) rs749588662
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.3796-14C>T rs377210987
NM_000069.3(CACNA1S):c.3861+14G>T rs200654730
NM_000069.3(CACNA1S):c.3904C>T (p.Arg1302Trp) rs780390034
NM_000069.3(CACNA1S):c.3970G>A (p.Ala1324Thr) rs886045797
NM_000069.3(CACNA1S):c.398+3G>A rs764710968
NM_000069.3(CACNA1S):c.399-3T>C rs886045802
NM_000069.3(CACNA1S):c.4061C>T (p.Thr1354Ile) rs200487546
NM_000069.3(CACNA1S):c.4243G>A (p.Gly1415Arg) rs886045796
NM_000069.3(CACNA1S):c.4437G>A (p.Thr1479=) rs200538716
NM_000069.3(CACNA1S):c.4441+3G>A rs886045795
NM_000069.3(CACNA1S):c.4546G>C (p.Asp1516His) rs764330337
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.5008T>A (p.Tyr1670Asn) rs146696748
NM_000069.3(CACNA1S):c.5020A>C (p.Asn1674His) rs886045794
NM_000069.3(CACNA1S):c.688G>A (p.Gly230Ser) rs754860600
NM_000069.3(CACNA1S):c.772G>A (p.Gly258Ser) rs886045801
NM_000069.3(CACNA1S):c.889G>A (p.Val297Ile) rs138205421
NM_000069.3(CACNA1S):c.909T>C (p.Asp303=) rs760398733
NM_000069.3(CACNA1S):c.951C>T (p.Leu317=) rs773209639

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