ClinVar Miner

List of variants in gene CACNA1S reported as likely benign by GeneDx

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 104
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HGVS dbSNP
NC_000001.11:g.201069467G>A
NC_000001.11:g.201093879C>T
NC_000001.11:g.201094164dup
NM_000069.2(CACNA1S):c.2854-17_2854-14dup rs747117832
NM_000069.3(CACNA1S):c.1005-154C>T
NM_000069.3(CACNA1S):c.1047C>T (p.Thr349=) rs542505383
NM_000069.3(CACNA1S):c.1233-111G>A
NM_000069.3(CACNA1S):c.1233-40C>T
NM_000069.3(CACNA1S):c.1290G>A (p.Lys430=) rs1241905770
NM_000069.3(CACNA1S):c.1393+11A>T rs753604199
NM_000069.3(CACNA1S):c.1393+16G>A rs374866886
NM_000069.3(CACNA1S):c.1393+18G>T rs199625342
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.1467C>T (p.Arg489=) rs1384040104
NM_000069.3(CACNA1S):c.152+17G>A rs113558244
NM_000069.3(CACNA1S):c.1547C>T (p.Ser516Leu) rs140662085
NM_000069.3(CACNA1S):c.1563C>A (p.Pro521=) rs775975526
NM_000069.3(CACNA1S):c.1611G>A (p.Lys537=) rs765888271
NM_000069.3(CACNA1S):c.1619+10G>A rs374195664
NM_000069.3(CACNA1S):c.1619+15C>T rs771698501
NM_000069.3(CACNA1S):c.1619+299C>A
NM_000069.3(CACNA1S):c.1629G>T (p.Thr543=) rs143999390
NM_000069.3(CACNA1S):c.165G>A (p.Thr55=) rs150520884
NM_000069.3(CACNA1S):c.1670G>A (p.Arg557His) rs4915212
NM_000069.3(CACNA1S):c.1711G>A (p.Val571Ile) rs114191482
NM_000069.3(CACNA1S):c.1884C>G (p.Gly628=) rs200743095
NM_000069.3(CACNA1S):c.1903A>G (p.Met635Val) rs201784750
NM_000069.3(CACNA1S):c.1948+13G>C rs538625530
NM_000069.3(CACNA1S):c.1948+18G>A rs113175669
NM_000069.3(CACNA1S):c.1949-6G>A rs373698107
NM_000069.3(CACNA1S):c.2063+253C>T
NM_000069.3(CACNA1S):c.2142C>A (p.Ile714=) rs1057524027
NM_000069.3(CACNA1S):c.2148C>T (p.Thr716=) rs747075757
NM_000069.3(CACNA1S):c.2289G>A (p.Glu763=) rs1427158400
NM_000069.3(CACNA1S):c.2310C>T (p.Ala770=) rs113659687
NM_000069.3(CACNA1S):c.2361-11C>T rs376279583
NM_000069.3(CACNA1S):c.2361-13C>T rs2182117
NM_000069.3(CACNA1S):c.2361-269A>C
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.2505T>C (p.Phe835=) rs1057524226
NM_000069.3(CACNA1S):c.2551-192A>G
NM_000069.3(CACNA1S):c.2551-286C>G
NM_000069.3(CACNA1S):c.2551-76C>T
NM_000069.3(CACNA1S):c.259-43C>T
NM_000069.3(CACNA1S):c.2601C>T (p.Tyr867=) rs34374418
NM_000069.3(CACNA1S):c.2657+10G>A rs371339601
NM_000069.3(CACNA1S):c.2657+9C>T rs375784883
NM_000069.3(CACNA1S):c.2658G>A (p.Glu886=) rs140924492
NM_000069.3(CACNA1S):c.2745+14C>T rs74138824
NM_000069.3(CACNA1S):c.2746-123del
NM_000069.3(CACNA1S):c.2835C>T (p.Ile945=) rs753072795
NM_000069.3(CACNA1S):c.2854-89C>G
NM_000069.3(CACNA1S):c.2907-16G>A
NM_000069.3(CACNA1S):c.2957G>A (p.Arg986His) rs140453525
NM_000069.3(CACNA1S):c.3129C>A (p.Ile1043=) rs774801845
NM_000069.3(CACNA1S):c.324C>T (p.Tyr108=) rs200487405
NM_000069.3(CACNA1S):c.3414+3A>T rs892742196
NM_000069.3(CACNA1S):c.345C>T (p.Asp115=) rs144218745
NM_000069.3(CACNA1S):c.3526-197A>G
NM_000069.3(CACNA1S):c.3609+11G>A
NM_000069.3(CACNA1S):c.3610-167A>C
NM_000069.3(CACNA1S):c.3628G>A (p.Gly1210Arg) rs148870919
NM_000069.3(CACNA1S):c.3667-4G>A rs762497596
NM_000069.3(CACNA1S):c.369T>C (p.Asn123=) rs148680317
NM_000069.3(CACNA1S):c.373C>T (p.Leu125=) rs1464376202
NM_000069.3(CACNA1S):c.3777G>A (p.Thr1259=) rs147646714
NM_000069.3(CACNA1S):c.3796-13G>A rs374572342
NM_000069.3(CACNA1S):c.383C>G (p.Thr128Ser) rs139491817
NM_000069.3(CACNA1S):c.3862-251T>A
NM_000069.3(CACNA1S):c.394C>A (p.Leu132Met) rs377030324
NM_000069.3(CACNA1S):c.3953+14G>A rs201077181
NM_000069.3(CACNA1S):c.3953+16C>T rs201874906
NM_000069.3(CACNA1S):c.3953+7G>A rs141071505
NM_000069.3(CACNA1S):c.399-145T>A
NM_000069.3(CACNA1S):c.4026G>A (p.Ser1342=) rs757432785
NM_000069.3(CACNA1S):c.4060A>T (p.Thr1354Ser) rs145910245
NM_000069.3(CACNA1S):c.4114-3C>T rs182873269
NM_000069.3(CACNA1S):c.4114-8T>C rs373675720
NM_000069.3(CACNA1S):c.4339-14G>A
NM_000069.3(CACNA1S):c.4377C>T (p.Gly1459=) rs138189035
NM_000069.3(CACNA1S):c.4425C>T (p.Leu1475=) rs1553248697
NM_000069.3(CACNA1S):c.4572C>T (p.Tyr1524=) rs765581827
NM_000069.3(CACNA1S):c.4668+19T>C rs140742077
NM_000069.3(CACNA1S):c.4954C>T (p.Arg1652Cys) rs143933255
NM_000069.3(CACNA1S):c.4996G>A (p.Ala1666Thr) rs145340252
NM_000069.3(CACNA1S):c.5048+8C>T
NM_000069.3(CACNA1S):c.5135-4A>G rs1388042700
NM_000069.3(CACNA1S):c.5227-20C>T rs377205612
NM_000069.3(CACNA1S):c.5370+10G>A rs368138384
NM_000069.3(CACNA1S):c.5371-19C>T rs201064986
NM_000069.3(CACNA1S):c.540T>C (p.Pro180=) rs138245131
NM_000069.3(CACNA1S):c.5515C>T (p.Pro1839Ser) rs149547196
NM_000069.3(CACNA1S):c.5570G>A (p.Ser1857Asn) rs72749169
NM_000069.3(CACNA1S):c.5592C>T (p.Ser1864=) rs751405561
NM_000069.3(CACNA1S):c.588C>G (p.Leu196=) rs746654928
NM_000069.3(CACNA1S):c.708G>C (p.Thr236=) rs754213830
NM_000069.3(CACNA1S):c.789C>A (p.Gly263=) rs368173398
NM_000069.3(CACNA1S):c.870C>T (p.Thr290=) rs780305979
NM_000069.3(CACNA1S):c.900+14C>T rs377170574
NM_000069.3(CACNA1S):c.900+9G>A rs1454687459
NM_000069.3(CACNA1S):c.915C>T (p.Ile305=) rs376517944

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