ClinVar Miner

List of variants in gene CACNA1C reported as likely benign for Timothy syndrome

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Gene type:
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Total variants: 95
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HGVS dbSNP
NM_000719.7(CACNA1C):c.*1125G>A rs570747990
NM_000719.7(CACNA1C):c.*1151C>T rs537475117
NM_000719.7(CACNA1C):c.*1300C>T rs143803992
NM_000719.7(CACNA1C):c.*1689A>G rs139709871
NM_000719.7(CACNA1C):c.*2042G>A rs149795791
NM_000719.7(CACNA1C):c.*2103C>T rs191543371
NM_000719.7(CACNA1C):c.*2288G>A rs554155021
NM_000719.7(CACNA1C):c.*2309C>T rs116641954
NM_000719.7(CACNA1C):c.*2407C>T rs141404717
NM_000719.7(CACNA1C):c.*2408G>A rs186995179
NM_000719.7(CACNA1C):c.*2623A>G rs150929187
NM_000719.7(CACNA1C):c.*2707C>G rs150102516
NM_000719.7(CACNA1C):c.*2712T>C rs114210134
NM_000719.7(CACNA1C):c.*2825A>G rs116458640
NM_000719.7(CACNA1C):c.*2857G>A rs574512387
NM_000719.7(CACNA1C):c.*2946C>T rs186730731
NM_000719.7(CACNA1C):c.*3139C>A rs542939520
NM_000719.7(CACNA1C):c.*3178A>T rs182911711
NM_000719.7(CACNA1C):c.*3223C>A rs188414960
NM_000719.7(CACNA1C):c.*3338C>T rs146988619
NM_000719.7(CACNA1C):c.*3687A>C rs565244661
NM_000719.7(CACNA1C):c.*3754T>G rs148297942
NM_000719.7(CACNA1C):c.*3804C>T rs187762587
NM_000719.7(CACNA1C):c.*3832A>C rs141416292
NM_000719.7(CACNA1C):c.*3892C>T rs150840433
NM_000719.7(CACNA1C):c.*4235C>T rs146118155
NM_000719.7(CACNA1C):c.*4467del rs142680435
NM_000719.7(CACNA1C):c.*4507G>A rs563492875
NM_000719.7(CACNA1C):c.*4758G>T rs576174010
NM_000719.7(CACNA1C):c.*4810C>T rs545412059
NM_000719.7(CACNA1C):c.*5147A>G rs188226168
NM_000719.7(CACNA1C):c.*5261A>G rs142071307
NM_000719.7(CACNA1C):c.*5549A>C rs146965892
NM_000719.7(CACNA1C):c.*5585G>A rs12316069
NM_000719.7(CACNA1C):c.*5859C>T rs115164454
NM_000719.7(CACNA1C):c.*5968A>C rs184753996
NM_000719.7(CACNA1C):c.*5968_*5970del rs199562776
NM_000719.7(CACNA1C):c.*6023T>C rs550625173
NM_000719.7(CACNA1C):c.*6193G>A rs569757278
NM_000719.7(CACNA1C):c.*6533T>C rs181496343
NM_000719.7(CACNA1C):c.*6553T>G rs548023803
NM_000719.7(CACNA1C):c.*768dup rs200287665
NM_000719.7(CACNA1C):c.*769A>T rs188578534
NM_000719.7(CACNA1C):c.*868C>T rs3518
NM_000719.7(CACNA1C):c.-181G>A rs112412740
NM_000719.7(CACNA1C):c.1002C>T (p.Pro334=) rs112002520
NM_000719.7(CACNA1C):c.109G>A (p.Gly37Arg) rs34534613
NM_000719.7(CACNA1C):c.1176G>T (p.Gly392=) rs1051360
NM_000719.7(CACNA1C):c.1468G>A (p.Gly490Arg) rs121912775
NM_000719.7(CACNA1C):c.1557C>A (p.Ala519=) rs186720824
NM_000719.7(CACNA1C):c.171C>T (p.Asp57=) rs34419050
NM_000719.7(CACNA1C):c.1734G>A (p.Leu578=) rs150692845
NM_000719.7(CACNA1C):c.1794C>T (p.Gly598=) rs116491041
NM_000719.7(CACNA1C):c.213G>A (p.Ala71=) rs113869350
NM_000719.7(CACNA1C):c.2437G>A (p.Gly813Arg) rs545511851
NM_000719.7(CACNA1C):c.2449C>T (p.Pro817Ser) rs112532048
NM_000719.7(CACNA1C):c.3049-10C>T rs186741807
NM_000719.7(CACNA1C):c.3114G>C (p.Leu1038=) rs114139824
NM_000719.7(CACNA1C):c.3234C>T (p.Asp1078=) rs111606207
NM_000719.7(CACNA1C):c.3330C>T (p.Thr1110=) rs375202118
NM_000719.7(CACNA1C):c.3368G>A (p.Arg1123His) rs745853358
NM_000719.7(CACNA1C):c.3387G>A (p.Thr1129=) rs188224114
NM_000719.7(CACNA1C):c.3567C>T (p.Cys1189=) rs202058956
NM_000719.7(CACNA1C):c.3642C>T (p.Tyr1214=) rs56394008
NM_000719.7(CACNA1C):c.372-15G>A rs55792866
NM_000719.7(CACNA1C):c.3780C>A (p.Gly1260=) rs201258230
NM_000719.7(CACNA1C):c.3933C>T (p.Cys1311=) rs199569953
NM_000719.7(CACNA1C):c.3948C>T (p.Asn1316=) rs150092451
NM_000719.7(CACNA1C):c.4038C>T (p.Ile1346=) rs56180838
NM_000719.7(CACNA1C):c.4623+13G>A rs111734850
NM_000719.7(CACNA1C):c.4624-9C>T rs377568567
NM_000719.7(CACNA1C):c.4659C>T (p.Asp1553=) rs563090568
NM_000719.7(CACNA1C):c.5064C>T (p.Ser1688=) rs139872789
NM_000719.7(CACNA1C):c.5097C>T (p.Ala1699=) rs113595214
NM_000719.7(CACNA1C):c.5139C>T (p.Asp1713=) rs115216455
NM_000719.7(CACNA1C):c.5150C>G (p.Ala1717Gly) rs201492706
NM_000719.7(CACNA1C):c.5214C>A (p.Gly1738=) rs199538058
NM_000719.7(CACNA1C):c.5292C>T (p.Asn1764=) rs72552065
NM_000719.7(CACNA1C):c.5360C>T (p.Thr1787Met) rs192749597
NM_000719.7(CACNA1C):c.5383G>A (p.Gly1795Arg) rs111298509
NM_000719.7(CACNA1C):c.5451C>T (p.His1817=) rs113239186
NM_000719.7(CACNA1C):c.5492C>T (p.Thr1831Met) rs186015395
NM_000719.7(CACNA1C):c.5604A>G (p.Gln1868=) rs11062316
NM_000719.7(CACNA1C):c.5644T>C (p.Ser1882Pro) rs369438564
NM_000719.7(CACNA1C):c.5649G>A (p.Pro1883=) rs56270948
NM_000719.7(CACNA1C):c.5665C>T (p.Arg1889Cys) rs185788586
NM_000719.7(CACNA1C):c.5680+11C>T rs66611965
NM_000719.7(CACNA1C):c.5680+15C>T rs114036394
NM_000719.7(CACNA1C):c.579C>T (p.Asn193=) rs561224137
NM_000719.7(CACNA1C):c.5918G>A (p.Arg1973Gln) rs112414325
NM_000719.7(CACNA1C):c.6344G>C (p.Gly2115Ala) rs199694744
NM_000719.7(CACNA1C):c.846C>T (p.Tyr282=) rs200847105
NM_000719.7(CACNA1C):c.906G>A (p.Glu302=) rs367860917
NM_000719.7(CACNA1C):c.911T>C (p.Ile304Thr) rs201756421
NM_000719.7(CACNA1C):c.966C>T (p.His322=) rs112539787

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