ClinVar Miner

List of variants in gene CACNA1S studied for not provided

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Gene type:
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Total variants: 173
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HGVS dbSNP
NC_000001.11:g.201069467G>A
NC_000001.11:g.201073349_201073351del
NC_000001.11:g.201074175del
NC_000001.11:g.201074718_201074719del
NC_000001.11:g.201093879C>T
NC_000001.11:g.201094164dup
NC_000001.11:g.201110107C>T
NC_000001.11:g.201112156del
NC_000001.11:g.201112570T>C
NC_000001.11:g.201112649C>G
NC_000001.11:g.201112815C>G
NC_000001.11:g.201112815C>T
NM_000069.3(CACNA1S):c.-4A>G rs200408018
NM_000069.3(CACNA1S):c.-83C>T rs116071603
NM_000069.3(CACNA1S):c.1004+205A>G
NM_000069.3(CACNA1S):c.1005-154C>T
NM_000069.3(CACNA1S):c.1106G>A (p.Trp369Ter) rs1558076931
NM_000069.3(CACNA1S):c.1151-38C>A
NM_000069.3(CACNA1S):c.1233-111G>A
NM_000069.3(CACNA1S):c.1233-190C>T
NM_000069.3(CACNA1S):c.1233-293C>T
NM_000069.3(CACNA1S):c.1233-40C>T
NM_000069.3(CACNA1S):c.1256G>A (p.Arg419His) rs370861322
NM_000069.3(CACNA1S):c.1269G>A (p.Trp423Ter) rs1558075630
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.1369C>T (p.Pro457Ser) rs372374492
NM_000069.3(CACNA1S):c.1370C>T (p.Pro457Leu) rs1450678337
NM_000069.3(CACNA1S):c.1382C>A (p.Thr461Asn) rs143202536
NM_000069.3(CACNA1S):c.1385G>A (p.Arg462His)
NM_000069.3(CACNA1S):c.1393+91A>G
NM_000069.3(CACNA1S):c.1408G>T (p.Val470Leu) rs867624444
NM_000069.3(CACNA1S):c.1465C>T (p.Arg489Cys) rs138364213
NM_000069.3(CACNA1S):c.1493G>A (p.Arg498His) rs150590855
NM_000069.3(CACNA1S):c.1493G>T (p.Arg498Leu) rs150590855
NM_000069.3(CACNA1S):c.152+299T>C
NM_000069.3(CACNA1S):c.152+56G>A
NM_000069.3(CACNA1S):c.153-166G>A
NM_000069.3(CACNA1S):c.153-193G>T
NM_000069.3(CACNA1S):c.153-321G>A
NM_000069.3(CACNA1S):c.153-61A>T
NM_000069.3(CACNA1S):c.1551T>C (p.Gly517=) rs4915477
NM_000069.3(CACNA1S):c.1583G>A (p.Arg528His) rs80338777
NM_000069.3(CACNA1S):c.1619+299C>A
NM_000069.3(CACNA1S):c.1620-124A>C
NM_000069.3(CACNA1S):c.1620-133T>C
NM_000069.3(CACNA1S):c.1664C>G (p.Ser555Cys) rs1558071888
NM_000069.3(CACNA1S):c.1711G>A (p.Val571Ile) rs114191482
NM_000069.3(CACNA1S):c.1817G>A (p.Ser606Asn) rs142356235
NM_000069.3(CACNA1S):c.1827+3A>G rs1057522801
NM_000069.3(CACNA1S):c.1828-5T>C rs1998721
NM_000069.3(CACNA1S):c.1882G>A (p.Gly628Ser) rs768445692
NM_000069.3(CACNA1S):c.1904T>A (p.Met635Lys) rs144590408
NM_000069.3(CACNA1S):c.1948+1G>A rs745712829
NM_000069.3(CACNA1S):c.1948+279G>A
NM_000069.3(CACNA1S):c.1995C>T (p.Ala665=) rs16847664
NM_000069.3(CACNA1S):c.2048G>A (p.Arg683His) rs141031133
NM_000069.3(CACNA1S):c.2063+253C>T
NM_000069.3(CACNA1S):c.2063+333G>A
NM_000069.3(CACNA1S):c.2064-213C>T
NM_000069.3(CACNA1S):c.208G>A (p.Val70Met) rs771706267
NM_000069.3(CACNA1S):c.2099C>T (p.Thr700Met) rs147112322
NM_000069.3(CACNA1S):c.2157+59C>T
NM_000069.3(CACNA1S):c.2269C>T (p.Arg757Ter) rs770073633
NM_000069.3(CACNA1S):c.2361-269A>C
NM_000069.3(CACNA1S):c.2365C>T (p.Arg789Cys) rs148895719
NM_000069.3(CACNA1S):c.2381G>A (p.Arg794His) rs760674518
NM_000069.3(CACNA1S):c.2403T>C (p.Phe801=) rs7415038
NM_000069.3(CACNA1S):c.2407A>G (p.Asn803Asp) rs561979536
NM_000069.3(CACNA1S):c.2491-1G>T rs1558067283
NM_000069.3(CACNA1S):c.2550+303A>G
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.258+199_258+200dup
NM_000069.3(CACNA1S):c.258+204C>T
NM_000069.3(CACNA1S):c.258+271T>C
NM_000069.3(CACNA1S):c.2582G>C (p.Gly861Ala) rs369192794
NM_000069.3(CACNA1S):c.259-43C>T
NM_000069.3(CACNA1S):c.262A>G (p.Lys88Glu) rs140330831
NM_000069.3(CACNA1S):c.2658-163C>A
NM_000069.3(CACNA1S):c.2658-44T>A
NM_000069.3(CACNA1S):c.2673C>T (p.Ser891=) rs16847623
NM_000069.3(CACNA1S):c.2707C>T (p.Arg903Ter) rs367983954
NM_000069.3(CACNA1S):c.2746-123del
NM_000069.3(CACNA1S):c.2748C>T (p.His916=) rs2297902
NM_000069.3(CACNA1S):c.2752G>T (p.Val918Leu) rs1558065059
NM_000069.3(CACNA1S):c.2755C>T (p.Gln919Ter) rs1558065045
NM_000069.3(CACNA1S):c.2854-89C>G
NM_000069.3(CACNA1S):c.2907-16G>A
NM_000069.3(CACNA1S):c.2920G>A (p.Val974Met) rs757840865
NM_000069.3(CACNA1S):c.2992G>A (p.Asp998Asn) rs116347156
NM_000069.3(CACNA1S):c.3026C>T (p.Thr1009Met) rs200224590
NM_000069.3(CACNA1S):c.3054-72C>T
NM_000069.3(CACNA1S):c.3157G>A (p.Ala1053Thr) rs1558062351
NM_000069.3(CACNA1S):c.3245A>G (p.Asp1082Gly) rs1558062219
NM_000069.3(CACNA1S):c.3256C>A (p.Arg1086Ser) rs80338782
NM_000069.3(CACNA1S):c.3256C>T (p.Arg1086Cys) rs80338782
NM_000069.3(CACNA1S):c.3261A>G (p.Gln1087=) rs34515088
NM_000069.3(CACNA1S):c.3398T>C (p.Ile1133Thr) rs1558061864
NM_000069.3(CACNA1S):c.3419A>G (p.Tyr1140Cys) rs1043042231
NM_000069.3(CACNA1S):c.3494T>A (p.Met1165Lys) rs1558061202
NM_000069.3(CACNA1S):c.3526-197A>G
NM_000069.3(CACNA1S):c.3526-232C>T
NM_000069.3(CACNA1S):c.3609+11G>A
NM_000069.3(CACNA1S):c.3610-167A>C
NM_000069.3(CACNA1S):c.3610-291C>G
NM_000069.3(CACNA1S):c.3667-319G>C
NM_000069.3(CACNA1S):c.3715C>G (p.Arg1239Gly) rs28930069
NM_000069.3(CACNA1S):c.3716G>A (p.Arg1239His) rs28930068
NM_000069.3(CACNA1S):c.3722T>C (p.Met1241Thr) rs756259956
NM_000069.3(CACNA1S):c.3795G>T (p.Gln1265His) rs201627041
NM_000069.3(CACNA1S):c.3822C>T (p.Ile1274=) rs56183942
NM_000069.3(CACNA1S):c.3829C>T (p.Leu1277Phe) rs1558057794
NM_000069.3(CACNA1S):c.383C>G (p.Thr128Ser) rs139491817
NM_000069.3(CACNA1S):c.3844G>T (p.Ala1282Ser) rs774300377
NM_000069.3(CACNA1S):c.3862-251T>A
NM_000069.3(CACNA1S):c.3953+66G>C
NM_000069.3(CACNA1S):c.3953+6C>T rs115707724
NM_000069.3(CACNA1S):c.3954-303A>C
NM_000069.3(CACNA1S):c.3954-89C>T
NM_000069.3(CACNA1S):c.3954G>C (p.Arg1318Ser) rs1558056548
NM_000069.3(CACNA1S):c.398+149A>G
NM_000069.3(CACNA1S):c.3988del (p.Leu1330fs) rs757045433
NM_000069.3(CACNA1S):c.399-145T>A
NM_000069.3(CACNA1S):c.4038del (p.Glu1348fs) rs1553248947
NM_000069.3(CACNA1S):c.4060A>T (p.Thr1354Ser) rs145910245
NM_000069.3(CACNA1S):c.4081T>C (p.Phe1361Leu) rs1558056421
NM_000069.3(CACNA1S):c.4113+1G>A rs1558056376
NM_000069.3(CACNA1S):c.4113+7T>C rs6702590
NM_000069.3(CACNA1S):c.4241+183G>A
NM_000069.3(CACNA1S):c.4243G>A (p.Gly1415Arg) rs886045796
NM_000069.3(CACNA1S):c.4339-14G>A
NM_000069.3(CACNA1S):c.4441+22dup
NM_000069.3(CACNA1S):c.4468C>T (p.Leu1490=) rs149036408
NM_000069.3(CACNA1S):c.4522C>G (p.Gln1508Glu) rs970352258
NM_000069.3(CACNA1S):c.4615C>T (p.Arg1539Cys) rs3850625
NM_000069.3(CACNA1S):c.4669-150C>T
NM_000069.3(CACNA1S):c.4679G>T (p.Arg1560Leu)
NM_000069.3(CACNA1S):c.4797+120A>G
NM_000069.3(CACNA1S):c.4798-278G>A
NM_000069.3(CACNA1S):c.4810C>A (p.Leu1604Met) rs144059385
NM_000069.3(CACNA1S):c.481G>A (p.Val161Ile) rs138265497
NM_000069.3(CACNA1S):c.482T>C (p.Val161Ala) rs141521945
NM_000069.3(CACNA1S):c.4862T>C (p.Val1621Ala) rs1064796136
NM_000069.3(CACNA1S):c.4882C>T (p.Leu1628Phe) rs200848930
NM_000069.3(CACNA1S):c.4916A>T (p.Glu1639Val) rs146885451
NM_000069.3(CACNA1S):c.502C>T (p.Arg168Ter) rs201998231
NM_000069.3(CACNA1S):c.5048+162G>A
NM_000069.3(CACNA1S):c.5048+8C>T
NM_000069.3(CACNA1S):c.5049-145A>G
NM_000069.3(CACNA1S):c.5069del (p.Phe1690fs) rs1558049955
NM_000069.3(CACNA1S):c.5104C>T (p.Arg1702Ter) rs550371466
NM_000069.3(CACNA1S):c.5105G>A (p.Arg1702Gln) rs201310235
NM_000069.3(CACNA1S):c.5135-56A>G
NM_000069.3(CACNA1S):c.514C>A (p.Pro172Thr)
NM_000069.3(CACNA1S):c.5227-54T>C
NM_000069.3(CACNA1S):c.5248A>G (p.Met1750Val) rs771065920
NM_000069.3(CACNA1S):c.5462A>G (p.Glu1821Gly) rs1057524423
NM_000069.3(CACNA1S):c.5570G>A (p.Ser1857Asn) rs72749169
NM_000069.3(CACNA1S):c.5576A>G (p.Asp1859Gly) rs1057524424
NM_000069.3(CACNA1S):c.5620T>C (p.Ter1874Arg) rs1558047318
NM_000069.3(CACNA1S):c.597C>T (p.Ile199=) rs2296383
NM_000069.3(CACNA1S):c.619G>A (p.Val207Ile) rs767571919
NM_000069.3(CACNA1S):c.694+243G>A
NM_000069.3(CACNA1S):c.695-101A>G
NM_000069.3(CACNA1S):c.707C>A (p.Thr236Lys) rs767790285
NM_000069.3(CACNA1S):c.773G>A (p.Gly258Asp) rs35534614
NM_000069.3(CACNA1S):c.773G>T (p.Gly258Val) rs35534614
NM_000069.3(CACNA1S):c.791_812dup (p.Ile272fs) rs1558079148
NM_000069.3(CACNA1S):c.858C>T (p.Tyr286=) rs61734621
NM_000069.3(CACNA1S):c.895T>C (p.Tyr299His) rs35856559
NM_000069.3(CACNA1S):c.900G>A (p.Trp300Ter) rs148317787

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