ClinVar Miner

List of variants in gene CACNA1S reported as uncertain significance by Illumina Laboratory Services, Illumina

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Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_000069.3(CACNA1S):c.2100G>A (p.Thr700=) rs774160640 0.00017
NM_000069.3(CACNA1S):c.1465C>T (p.Arg489Cys) rs138364213 0.00013
NM_000069.3(CACNA1S):c.1948+13G>C rs538625530 0.00012
NM_000069.3(CACNA1S):c.4818C>T (p.Gly1606=) rs146619460 0.00011
NM_000069.2(CACNA1S):c.-206C>T rs886045806 0.00009
NM_000069.3(CACNA1S):c.*252T>C rs182257024 0.00009
NM_000069.3(CACNA1S):c.4752G>A (p.Leu1584=) rs763069723 0.00006
NM_000069.3(CACNA1S):c.2877C>T (p.Asp959=) rs138328785 0.00005
NM_000069.3(CACNA1S):c.398+3G>A rs764710968 0.00005
NM_000069.3(CACNA1S):c.909T>C (p.Asp303=) rs760398733 0.00005
NM_000069.3(CACNA1S):c.2754G>A (p.Val918=) rs150708636 0.00004
NM_000069.3(CACNA1S):c.2835C>T (p.Ile945=) rs753072795 0.00004
NM_000069.3(CACNA1S):c.4437G>A (p.Thr1479=) rs200538716 0.00004
NM_000069.3(CACNA1S):c.4461C>T (p.Asn1487=) rs149668892 0.00004
NM_000069.3(CACNA1S):c.490C>T (p.Leu164Phe) rs747238231 0.00004
NM_000069.3(CACNA1S):c.4776G>A (p.Ala1592=) rs752911523 0.00003
NM_000069.3(CACNA1S):c.699C>T (p.Ile233=) rs756008578 0.00003
NM_000069.3(CACNA1S):c.785G>A (p.Arg262Gln) rs776311349 0.00003
NM_000069.3(CACNA1S):c.4441+3G>A rs886045795 0.00002
NM_000069.3(CACNA1S):c.4501A>G (p.Thr1501Ala) rs373248127 0.00002
NM_000069.3(CACNA1S):c.772G>A (p.Gly258Ser) rs886045801 0.00002
NM_000069.2(CACNA1S):c.-147C>T rs886045805 0.00001
NM_000069.3(CACNA1S):c.1368G>A (p.Gln456=) rs767568799 0.00001
NM_000069.3(CACNA1S):c.1628C>T (p.Thr543Met) rs777962341 0.00001
NM_000069.3(CACNA1S):c.1876G>T (p.Ala626Ser) rs1661582242 0.00001
NM_000069.3(CACNA1S):c.2836G>A (p.Gly946Ser) rs569324688 0.00001
NM_000069.3(CACNA1S):c.2994C>A (p.Asp998Glu) rs886045798 0.00001
NM_000069.3(CACNA1S):c.3080A>G (p.Asn1027Ser) rs757112281 0.00001
NM_000069.3(CACNA1S):c.3189C>T (p.Phe1063=) rs150020550 0.00001
NM_000069.3(CACNA1S):c.356G>C (p.Arg119Pro) rs749588662 0.00001
NM_000069.3(CACNA1S):c.4061C>T (p.Thr1354Ile) rs200487546 0.00001
NM_000069.3(CACNA1S):c.4243G>A (p.Gly1415Arg) rs886045796 0.00001
NM_000069.3(CACNA1S):c.520C>T (p.Arg174Trp) rs772226819 0.00001
NM_000069.3(CACNA1S):c.766A>G (p.Ile256Val) rs190152688 0.00001
NM_000069.3(CACNA1S):c.*109G>T rs886045793
NM_000069.3(CACNA1S):c.*260T>A rs886045791
NM_000069.3(CACNA1S):c.1094G>A (p.Gly365Asp) rs1368460252
NM_000069.3(CACNA1S):c.1493G>A (p.Arg498His) rs150590855
NM_000069.3(CACNA1S):c.152+14C>T rs201285556
NM_000069.3(CACNA1S):c.1525C>A (p.Leu509Met)
NM_000069.3(CACNA1S):c.1619+10G>T rs374195664
NM_000069.3(CACNA1S):c.1725C>T (p.Leu575=) rs886045800
NM_000069.3(CACNA1S):c.1787A>C (p.Asn596Thr) rs376841055
NM_000069.3(CACNA1S):c.187G>T (p.Ala63Ser) rs886045804
NM_000069.3(CACNA1S):c.196G>A (p.Val66Met) rs886045803
NM_000069.3(CACNA1S):c.206C>T (p.Ala69Val) rs12406479
NM_000069.3(CACNA1S):c.2405C>T (p.Thr802Ile) rs1661378331
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.2892A>G (p.Thr964=) rs1181877748
NM_000069.3(CACNA1S):c.2979C>A (p.Ser993Arg) rs146497999
NM_000069.3(CACNA1S):c.3662A>T (p.Asn1221Ile) rs760995210
NM_000069.3(CACNA1S):c.3953+13C>T rs767630424
NM_000069.3(CACNA1S):c.3970G>A (p.Ala1324Thr) rs886045797
NM_000069.3(CACNA1S):c.399-3T>C rs886045802
NM_000069.3(CACNA1S):c.4418C>A (p.Thr1473Lys) rs560343078
NM_000069.3(CACNA1S):c.4877G>T (p.Arg1626Ile) rs1660358233
NM_000069.3(CACNA1S):c.5020A>C (p.Asn1674His) rs886045794
NM_000069.3(CACNA1S):c.5104C>T (p.Arg1702Ter) rs550371466
NM_000069.3(CACNA1S):c.520C>A (p.Arg174=) rs772226819
NM_000069.3(CACNA1S):c.688G>A (p.Gly230Ser) rs754860600
NM_000069.3(CACNA1S):c.695-6del rs748832613
NM_000069.3(CACNA1S):c.744G>C (p.Thr248=) rs373609219

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