ClinVar Miner

List of variants in gene CACNA1S reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 282
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HGVS dbSNP
NM_000069.3(CACNA1S):c.1060C>T (p.Arg354Trp)
NM_000069.3(CACNA1S):c.1091G>A (p.Arg364Gln) rs763360081
NM_000069.3(CACNA1S):c.1149A>G (p.Glu383=)
NM_000069.3(CACNA1S):c.1166A>T (p.Asp389Val) rs148770452
NM_000069.3(CACNA1S):c.1180G>A (p.Asp394Asn)
NM_000069.3(CACNA1S):c.1256G>A (p.Arg419His) rs370861322
NM_000069.3(CACNA1S):c.1282A>G (p.Ile428Val)
NM_000069.3(CACNA1S):c.1348G>A (p.Ala450Thr) rs150218077
NM_000069.3(CACNA1S):c.1352C>T (p.Ser451Leu) rs35521793
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.1383C>G (p.Thr461=) rs144920422
NM_000069.3(CACNA1S):c.1393+7C>T rs3767512
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.1493G>A (p.Arg498His) rs150590855
NM_000069.3(CACNA1S):c.1493G>T (p.Arg498Leu) rs150590855
NM_000069.3(CACNA1S):c.1503C>A (p.Cys501Ter) rs762294904
NM_000069.3(CACNA1S):c.1506C>T (p.Phe502=) rs141808465
NM_000069.3(CACNA1S):c.1547C>T (p.Ser516Leu) rs140662085
NM_000069.3(CACNA1S):c.1548G>A (p.Ser516=) rs16847669
NM_000069.3(CACNA1S):c.1557G>A (p.Met519Ile) rs200066766
NM_000069.3(CACNA1S):c.1558A>C (p.Thr520Pro) rs1182197306
NM_000069.3(CACNA1S):c.1583G>A (p.Arg528His) rs80338777
NM_000069.3(CACNA1S):c.1583G>T (p.Arg528Leu) rs80338777
NM_000069.3(CACNA1S):c.1592G>A (p.Arg531His)
NM_000069.3(CACNA1S):c.159C>T (p.Phe53=) rs199720439
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.1704C>A (p.Leu568=) rs201748367
NM_000069.3(CACNA1S):c.1711G>A (p.Val571Ile) rs114191482
NM_000069.3(CACNA1S):c.1723C>T (p.Leu575Phe)
NM_000069.3(CACNA1S):c.1745G>C (p.Gly582Ala) rs377459546
NM_000069.3(CACNA1S):c.1777C>A (p.Arg593=)
NM_000069.3(CACNA1S):c.1777C>T (p.Arg593Trp)
NM_000069.3(CACNA1S):c.1780C>T (p.Arg594Cys) rs200165212
NM_000069.3(CACNA1S):c.1781G>A (p.Arg594His) rs762032797
NM_000069.3(CACNA1S):c.1792_1794del (p.Asp598del)
NM_000069.3(CACNA1S):c.1796del (p.Asn599fs) rs1558071742
NM_000069.3(CACNA1S):c.1817G>A (p.Ser606Asn) rs142356235
NM_000069.3(CACNA1S):c.1827+6C>T
NM_000069.3(CACNA1S):c.1845C>T (p.Asp615=) rs200091030
NM_000069.3(CACNA1S):c.1847G>A (p.Trp616Ter)
NM_000069.3(CACNA1S):c.1852T>G (p.Ser618Ala) rs149195094
NM_000069.3(CACNA1S):c.1882G>A (p.Gly628Ser) rs768445692
NM_000069.3(CACNA1S):c.1890G>A (p.Pro630=) rs141717649
NM_000069.3(CACNA1S):c.1903A>G (p.Met635Val) rs201784750
NM_000069.3(CACNA1S):c.1912T>A (p.Cys638Ser)
NM_000069.3(CACNA1S):c.1935C>T (p.Phe645=) rs550584336
NM_000069.3(CACNA1S):c.1945A>C (p.Asn649His) rs760246258
NM_000069.3(CACNA1S):c.1948+10C>G rs201173419
NM_000069.3(CACNA1S):c.1949-7C>T rs368564115
NM_000069.3(CACNA1S):c.1981G>A (p.Val661Met) rs764736462
NM_000069.3(CACNA1S):c.1995C>T (p.Ala665=) rs16847664
NM_000069.3(CACNA1S):c.1996G>A (p.Glu666Lys) rs377082783
NM_000069.3(CACNA1S):c.200C>T (p.Ala67Val) rs1553254116
NM_000069.3(CACNA1S):c.2047C>T (p.Arg683Cys) rs35708442
NM_000069.3(CACNA1S):c.2048G>A (p.Arg683His) rs141031133
NM_000069.3(CACNA1S):c.2063+7G>T rs79984703
NM_000069.3(CACNA1S):c.206C>G (p.Ala69Gly) rs12406479
NM_000069.3(CACNA1S):c.2086_2088GAG[1] (p.Glu697del)
NM_000069.3(CACNA1S):c.2099C>T (p.Thr700Met) rs147112322
NM_000069.3(CACNA1S):c.2100G>A (p.Thr700=) rs774160640
NM_000069.3(CACNA1S):c.2103G>A (p.Met701Ile) rs1553251197
NM_000069.3(CACNA1S):c.2104G>T (p.Ala702Ser) rs1473781692
NM_000069.3(CACNA1S):c.2187C>T (p.Val729=) rs770255183
NM_000069.3(CACNA1S):c.2207A>T (p.Tyr736Phe)
NM_000069.3(CACNA1S):c.224C>T (p.Pro75Leu)
NM_000069.3(CACNA1S):c.2259G>A (p.Pro753=) rs200971359
NM_000069.3(CACNA1S):c.2296C>A (p.Leu766Met)
NM_000069.3(CACNA1S):c.2331C>T (p.Ser777=) rs749013125
NM_000069.3(CACNA1S):c.2361-10G>A rs533238983
NM_000069.3(CACNA1S):c.2361-3C>T
NM_000069.3(CACNA1S):c.2365C>T (p.Arg789Cys) rs148895719
NM_000069.3(CACNA1S):c.2376T>C (p.Cys792=) rs528604695
NM_000069.3(CACNA1S):c.2380C>T (p.Arg794Cys)
NM_000069.3(CACNA1S):c.2395A>T (p.Thr799Ser)
NM_000069.3(CACNA1S):c.2407A>G (p.Asn803Asp) rs561979536
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.2467C>T (p.Arg823Trp) rs199758244
NM_000069.3(CACNA1S):c.2476T>A (p.Ser826Thr) rs1558067487
NM_000069.3(CACNA1S):c.2480T>C (p.Met827Thr) rs61238538
NM_000069.3(CACNA1S):c.2490+5C>T
NM_000069.3(CACNA1S):c.2507A>G (p.Asp836Gly) rs1558067263
NM_000069.3(CACNA1S):c.252C>T (p.Leu84=) rs112868209
NM_000069.3(CACNA1S):c.253G>A (p.Gly85Ser)
NM_000069.3(CACNA1S):c.2556G>A (p.Thr852=) rs1160627876
NM_000069.3(CACNA1S):c.2562C>T (p.Tyr854=) rs373510147
NM_000069.3(CACNA1S):c.2593C>T (p.Arg865Cys)
NM_000069.3(CACNA1S):c.2601C>T (p.Tyr867=) rs34374418
NM_000069.3(CACNA1S):c.2628G>T (p.Val876=) rs200898535
NM_000069.3(CACNA1S):c.262A>G (p.Lys88Glu) rs140330831
NM_000069.3(CACNA1S):c.2657+10G>A rs371339601
NM_000069.3(CACNA1S):c.2657+9C>T rs375784883
NM_000069.3(CACNA1S):c.2658-9G>A rs367580345
NM_000069.3(CACNA1S):c.2667C>T (p.Ala889=) rs188071541
NM_000069.3(CACNA1S):c.2673C>T (p.Ser891=) rs16847623
NM_000069.3(CACNA1S):c.2690G>A (p.Arg897Lys) rs1287079817
NM_000069.3(CACNA1S):c.2691G>T (p.Arg897Ser) rs80338779
NM_000069.3(CACNA1S):c.2694G>T (p.Val898=) rs1553250516
NM_000069.3(CACNA1S):c.2726A>G (p.Asn909Ser)
NM_000069.3(CACNA1S):c.2729G>A (p.Arg910Lys)
NM_000069.3(CACNA1S):c.2748C>T (p.His916=) rs2297902
NM_000069.3(CACNA1S):c.2753T>C (p.Val918Ala) rs1558065055
NM_000069.3(CACNA1S):c.2754G>A (p.Val918=) rs150708636
NM_000069.3(CACNA1S):c.2767G>A (p.Val923Met) rs571902899
NM_000069.3(CACNA1S):c.2767G>C (p.Val923Leu) rs571902899
NM_000069.3(CACNA1S):c.2784C>T (p.Ile928=) rs143483718
NM_000069.3(CACNA1S):c.2812del (p.Leu938fs)
NM_000069.3(CACNA1S):c.2854-2A>C
NM_000069.3(CACNA1S):c.2919C>T (p.Tyr973=) rs751043315
NM_000069.3(CACNA1S):c.2920G>A (p.Val974Met) rs757840865
NM_000069.3(CACNA1S):c.2921T>A (p.Val974Glu)
NM_000069.3(CACNA1S):c.2952G>A (p.Glu984=) rs1553250091
NM_000069.3(CACNA1S):c.2960A>G (p.His987Arg) rs201174511
NM_000069.3(CACNA1S):c.2963G>A (p.Arg988His)
NM_000069.3(CACNA1S):c.2970G>A (p.Trp990Ter)
NM_000069.3(CACNA1S):c.2992G>A (p.Asp998Asn) rs116347156
NM_000069.3(CACNA1S):c.3013A>T (p.Met1005Leu)
NM_000069.3(CACNA1S):c.3091G>A (p.Val1031Met)
NM_000069.3(CACNA1S):c.3111C>A (p.Asn1037Lys) rs143836984
NM_000069.3(CACNA1S):c.3113G>A (p.Arg1038His)
NM_000069.3(CACNA1S):c.3144C>T (p.Tyr1048=) rs1468895414
NM_000069.3(CACNA1S):c.3157G>A (p.Ala1053Thr) rs1558062351
NM_000069.3(CACNA1S):c.315C>T (p.Ile105=) rs756365041
NM_000069.3(CACNA1S):c.3177C>T (p.Ile1059=) rs1553249999
NM_000069.3(CACNA1S):c.3185G>A (p.Gly1062Asp) rs1553249998
NM_000069.3(CACNA1S):c.3190G>A (p.Val1064Ile)
NM_000069.3(CACNA1S):c.3256C>T (p.Arg1086Cys) rs80338782
NM_000069.3(CACNA1S):c.325G>A (p.Gly109Ser)
NM_000069.3(CACNA1S):c.3261A>G (p.Gln1087=) rs34515088
NM_000069.3(CACNA1S):c.3286C>T (p.Arg1096Cys)
NM_000069.3(CACNA1S):c.3287G>A (p.Arg1096His) rs142102094
NM_000069.3(CACNA1S):c.3322C>G (p.Gln1108Glu) rs765685405
NM_000069.3(CACNA1S):c.3337T>C (p.Tyr1113His) rs1553249924
NM_000069.3(CACNA1S):c.3398T>C (p.Ile1133Thr) rs1558061864
NM_000069.3(CACNA1S):c.3406G>A (p.Gly1136Ser)
NM_000069.3(CACNA1S):c.3414+3A>T rs892742196
NM_000069.3(CACNA1S):c.3425A>C (p.Gln1142Pro) rs139373152
NM_000069.3(CACNA1S):c.3437T>A (p.Met1146Lys)
NM_000069.3(CACNA1S):c.3442C>T (p.His1148Tyr) rs1553249775
NM_000069.3(CACNA1S):c.345C>T (p.Asp115=) rs144218745
NM_000069.3(CACNA1S):c.3525+1G>A
NM_000069.3(CACNA1S):c.3525+7del rs759199210
NM_000069.3(CACNA1S):c.3530A>T (p.Tyr1177Phe)
NM_000069.3(CACNA1S):c.3569T>A (p.Val1190Asp)
NM_000069.3(CACNA1S):c.3584T>C (p.Ile1195Thr) rs200366112
NM_000069.3(CACNA1S):c.3609+6T>C rs1369529387
NM_000069.3(CACNA1S):c.3616C>T (p.Leu1206=) rs148105111
NM_000069.3(CACNA1S):c.3628G>A (p.Gly1210Arg) rs148870919
NM_000069.3(CACNA1S):c.3657C>T (p.Cys1219=) rs376781102
NM_000069.3(CACNA1S):c.3664G>A (p.Val1222Ile) rs202240111
NM_000069.3(CACNA1S):c.3686G>A (p.Arg1229His)
NM_000069.3(CACNA1S):c.369T>C (p.Asn123=) rs148680317
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.3752_3754del (p.Glu1251del) rs1283443722
NM_000069.3(CACNA1S):c.3754G>A (p.Gly1252Arg)
NM_000069.3(CACNA1S):c.3760C>G (p.Arg1254Gly)
NM_000069.3(CACNA1S):c.3761G>A (p.Arg1254Gln) rs530655602
NM_000069.3(CACNA1S):c.3777G>A (p.Thr1259=) rs147646714
NM_000069.3(CACNA1S):c.3795+3G>A rs191758096
NM_000069.3(CACNA1S):c.3796-9G>A rs142184434
NM_000069.3(CACNA1S):c.3802C>T (p.Pro1268Ser)
NM_000069.3(CACNA1S):c.3807C>T (p.Tyr1269=) rs990173222
NM_000069.3(CACNA1S):c.3811G>A (p.Ala1271Thr) rs138144724
NM_000069.3(CACNA1S):c.3822C>T (p.Ile1274=) rs56183942
NM_000069.3(CACNA1S):c.383C>G (p.Thr128Ser) rs139491817
NM_000069.3(CACNA1S):c.3890G>A (p.Gly1297Glu) rs749856222
NM_000069.3(CACNA1S):c.3906G>T (p.Arg1302=)
NM_000069.3(CACNA1S):c.394C>A (p.Leu132Met) rs377030324
NM_000069.3(CACNA1S):c.3953+6C>T rs115707724
NM_000069.3(CACNA1S):c.3953+7G>A rs141071505
NM_000069.3(CACNA1S):c.398+3G>A rs764710968
NM_000069.3(CACNA1S):c.3983T>G (p.Ile1328Ser)
NM_000069.3(CACNA1S):c.3998G>A (p.Ser1333Asn)
NM_000069.3(CACNA1S):c.4025C>A (p.Ser1342Ter)
NM_000069.3(CACNA1S):c.404T>C (p.Phe135Ser) rs1553252778
NM_000069.3(CACNA1S):c.4051A>G (p.Thr1351Ala) rs1251857483
NM_000069.3(CACNA1S):c.4053A>G (p.Thr1351=) rs13376324
NM_000069.3(CACNA1S):c.4060A>T (p.Thr1354Ser) rs145910245
NM_000069.3(CACNA1S):c.4113+1G>C rs1558056376
NM_000069.3(CACNA1S):c.4114-5T>A rs1421023094
NM_000069.3(CACNA1S):c.4114-8T>C rs373675720
NM_000069.3(CACNA1S):c.4145A>G (p.Asp1382Gly) rs1007920084
NM_000069.3(CACNA1S):c.4166G>A (p.Arg1389Gln)
NM_000069.3(CACNA1S):c.4170C>G (p.Asp1390Glu)
NM_000069.3(CACNA1S):c.4176C>G (p.Ser1392=) rs200935259
NM_000069.3(CACNA1S):c.4194C>T (p.His1398=) rs368919048
NM_000069.3(CACNA1S):c.4242G>A (p.Lys1414=) rs769933784
NM_000069.3(CACNA1S):c.4243G>A (p.Gly1415Arg) rs886045796
NM_000069.3(CACNA1S):c.4309A>C (p.Lys1437Gln) rs752196801
NM_000069.3(CACNA1S):c.4340G>A (p.Arg1447Gln) rs377474103
NM_000069.3(CACNA1S):c.4385C>A (p.Thr1462Asn)
NM_000069.3(CACNA1S):c.4419G>C (p.Thr1473=) rs540448406
NM_000069.3(CACNA1S):c.4441+3G>A rs886045795
NM_000069.3(CACNA1S):c.4462G>A (p.Glu1488Lys) rs533353353
NM_000069.3(CACNA1S):c.4468C>T (p.Leu1490=) rs149036408
NM_000069.3(CACNA1S):c.4490T>C (p.Ile1497Thr)
NM_000069.3(CACNA1S):c.4546G>C (p.Asp1516His) rs764330337
NM_000069.3(CACNA1S):c.454A>G (p.Met152Val)
NM_000069.3(CACNA1S):c.4573G>A (p.Ala1525Thr)
NM_000069.3(CACNA1S):c.460A>G (p.Ser154Gly) rs761768992
NM_000069.3(CACNA1S):c.4639C>T (p.Arg1547Trp)
NM_000069.3(CACNA1S):c.4686T>C (p.Ile1562=) rs138423302
NM_000069.3(CACNA1S):c.4690G>A (p.Glu1564Lys)
NM_000069.3(CACNA1S):c.4718C>T (p.Thr1573Met) rs183195890
NM_000069.3(CACNA1S):c.4731C>G (p.Asp1577Glu)
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.4778T>C (p.Met1593Thr)
NM_000069.3(CACNA1S):c.4786G>A (p.Gly1596Arg)
NM_000069.3(CACNA1S):c.4795C>T (p.Arg1599Trp) rs763695518
NM_000069.3(CACNA1S):c.4798-2A>G
NM_000069.3(CACNA1S):c.482T>C (p.Val161Ala) rs141521945
NM_000069.3(CACNA1S):c.4861G>A (p.Val1621Ile) rs756066219
NM_000069.3(CACNA1S):c.4871_4874del (p.Asn1624fs)
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.4954C>T (p.Arg1652Cys) rs143933255
NM_000069.3(CACNA1S):c.4962C>T (p.Asn1654=) rs370339547
NM_000069.3(CACNA1S):c.4972C>T (p.Arg1658Cys)
NM_000069.3(CACNA1S):c.4972_4973delinsTA (p.Arg1658Tyr) rs1553248123
NM_000069.3(CACNA1S):c.4984A>T (p.Asn1662Tyr)
NM_000069.3(CACNA1S):c.4987A>G (p.Asn1663Asp)
NM_000069.3(CACNA1S):c.4995C>T (p.Asn1665=) rs183440052
NM_000069.3(CACNA1S):c.5008T>A (p.Tyr1670Asn) rs146696748
NM_000069.3(CACNA1S):c.502C>T (p.Arg168Ter) rs201998231
NM_000069.3(CACNA1S):c.503G>A (p.Arg168Gln)
NM_000069.3(CACNA1S):c.5049-2A>G rs148989517
NM_000069.3(CACNA1S):c.5087C>T (p.Thr1696Met) rs367577681
NM_000069.3(CACNA1S):c.5104C>T (p.Arg1702Ter) rs550371466
NM_000069.3(CACNA1S):c.5105G>C (p.Arg1702Pro)
NM_000069.3(CACNA1S):c.5129T>C (p.Val1710Ala)
NM_000069.3(CACNA1S):c.5134+8C>T rs114243233
NM_000069.3(CACNA1S):c.5199A>G (p.Arg1733=) rs1490186766
NM_000069.3(CACNA1S):c.520C>T (p.Arg174Trp) rs772226819
NM_000069.3(CACNA1S):c.5238G>A (p.Val1746=) rs374660431
NM_000069.3(CACNA1S):c.5267G>A (p.Ser1756Asn)
NM_000069.3(CACNA1S):c.5299C>A (p.Pro1767Thr) rs200434921
NM_000069.3(CACNA1S):c.5309G>A (p.Arg1770Lys) rs1558048332
NM_000069.3(CACNA1S):c.530C>T (p.Ser177Leu) rs141204958
NM_000069.3(CACNA1S):c.5315C>G (p.Thr1772Ser) rs751225635
NM_000069.3(CACNA1S):c.5356C>T (p.Leu1786=) rs371876697
NM_000069.3(CACNA1S):c.5370+10G>A rs368138384
NM_000069.3(CACNA1S):c.5388C>T (p.Gly1796=) rs1553247345
NM_000069.3(CACNA1S):c.540T>C (p.Pro180=) rs138245131
NM_000069.3(CACNA1S):c.541+7G>A rs1218931598
NM_000069.3(CACNA1S):c.5490_5497del (p.Leu1832fs) rs554596425
NM_000069.3(CACNA1S):c.5510A>C (p.Glu1837Ala) rs200765341
NM_000069.3(CACNA1S):c.5515C>T (p.Pro1839Ser) rs149547196
NM_000069.3(CACNA1S):c.5550C>A (p.Asn1850Lys) rs141556780
NM_000069.3(CACNA1S):c.5554G>A (p.Gly1852Arg) rs540721779
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.5612C>T (p.Pro1871Leu) rs1553247246
NM_000069.3(CACNA1S):c.564del (p.Ile189fs) rs1553252746
NM_000069.3(CACNA1S):c.598G>A (p.Ala200Thr) rs527702358
NM_000069.3(CACNA1S):c.610C>G (p.Leu204Val)
NM_000069.3(CACNA1S):c.619G>A (p.Val207Ile) rs767571919
NM_000069.3(CACNA1S):c.639C>T (p.Ile213=) rs1229722414
NM_000069.3(CACNA1S):c.665T>A (p.Met222Lys)
NM_000069.3(CACNA1S):c.695-5T>A rs1487979476
NM_000069.3(CACNA1S):c.708G>C (p.Thr236=) rs754213830
NM_000069.3(CACNA1S):c.732del (p.Cys245fs)
NM_000069.3(CACNA1S):c.743C>T (p.Thr248Met) rs200665694
NM_000069.3(CACNA1S):c.755G>A (p.Arg252His)
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.858C>T (p.Tyr286=) rs61734621
NM_000069.3(CACNA1S):c.865A>G (p.Ile289Val) rs139920212
NM_000069.3(CACNA1S):c.86G>A (p.Arg29Gln)
NM_000069.3(CACNA1S):c.889G>A (p.Val297Ile) rs138205421
NM_000069.3(CACNA1S):c.895T>C (p.Tyr299His) rs35856559
NM_000069.3(CACNA1S):c.896A>T (p.Tyr299Phe)
NM_000069.3(CACNA1S):c.897C>G (p.Tyr299Ter)
NM_000069.3(CACNA1S):c.898T>C (p.Trp300Arg) rs370325121
NM_000069.3(CACNA1S):c.93G>C (p.Leu31Phe) rs556751671
NM_000069.3(CACNA1S):c.947C>G (p.Thr316Ser) rs1339416724
NM_000069.3(CACNA1S):c.982C>A (p.Leu328Met) rs1558078309

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