ClinVar Miner

List of variants in gene CACNA1C reported as uncertain significance

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 516
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HGVS dbSNP
GRCh37/hg19 12p13.33(chr12:2387098-2740808)x3
GRCh37/hg19 12p13.33(chr12:2564298-2674054)x3
GRCh37/hg19 12p13.33(chr12:2796406-2844076)x3
GRCh37/hg19 12p13.33(chr12:2796406-2851026)x1
GRCh38/hg38 12p13.33(chr12:2543999-2698761)x3
GRCh38/hg38 12p13.33(chr12:2688223-2726383)x1
GRCh38/hg38 12p13.33(chr12:2688223-2726383)x3
NC_000012.11:g.(?_2224370)_(2224731_?)dup
NC_000012.11:g.(?_2757621)_(2800385_?)dup
NC_000012.11:g.(?_2794882)_(2800385_?)dup
NC_000012.11:g.(?_2797593)_(2800385_?)dup
NC_000012.11:g.(?_2797603)_(2800375_?)dup
NM_000719.7(CACNA1C):c.*1473G>T rs886049221
NM_000719.7(CACNA1C):c.*1558T>A rs886049222
NM_000719.7(CACNA1C):c.*1569G>A rs886049223
NM_000719.7(CACNA1C):c.*1652_*1656GAATT[1] rs886049224
NM_000719.7(CACNA1C):c.*184G>A rs886049211
NM_000719.7(CACNA1C):c.*1911A>C rs186708407
NM_000719.7(CACNA1C):c.*1925C>T rs886049225
NM_000719.7(CACNA1C):c.*2456G>T rs142476147
NM_000719.7(CACNA1C):c.*2473G>A rs886049226
NM_000719.7(CACNA1C):c.*261G>C rs12828687
NM_000719.7(CACNA1C):c.*2651C>T rs767190987
NM_000719.7(CACNA1C):c.*267G>C rs752736296
NM_000719.7(CACNA1C):c.*2732T>G rs778220127
NM_000719.7(CACNA1C):c.*2817G>A rs555721726
NM_000719.7(CACNA1C):c.*290G>A rs749753216
NM_000719.7(CACNA1C):c.*297C>A rs886049212
NM_000719.7(CACNA1C):c.*3031T>A rs774490908
NM_000719.7(CACNA1C):c.*3042A>G rs886049227
NM_000719.7(CACNA1C):c.*3063C>G rs886049228
NM_000719.7(CACNA1C):c.*3299C>G rs886049229
NM_000719.7(CACNA1C):c.*3611C>T rs886049230
NM_000719.7(CACNA1C):c.*3722C>T rs886049231
NM_000719.7(CACNA1C):c.*3951G>C rs886049232
NM_000719.7(CACNA1C):c.*4025C>T rs886049233
NM_000719.7(CACNA1C):c.*4050G>A rs886049234
NM_000719.7(CACNA1C):c.*4134A>G rs886049235
NM_000719.7(CACNA1C):c.*4176G>T rs751166285
NM_000719.7(CACNA1C):c.*4198A>G rs886049236
NM_000719.7(CACNA1C):c.*4205C>T rs886049237
NM_000719.7(CACNA1C):c.*4226C>T rs776522592
NM_000719.7(CACNA1C):c.*4318G>A rs886049238
NM_000719.7(CACNA1C):c.*4345C>T rs886049239
NM_000719.7(CACNA1C):c.*4399T>G rs886049240
NM_000719.7(CACNA1C):c.*4410G>T rs547615657
NM_000719.7(CACNA1C):c.*4411C>T rs567401056
NM_000719.7(CACNA1C):c.*4440C>G rs886049241
NM_000719.7(CACNA1C):c.*4532G>A rs533634115
NM_000719.7(CACNA1C):c.*4598A>G rs376987352
NM_000719.7(CACNA1C):c.*5399T>C rs779194497
NM_000719.7(CACNA1C):c.*5599A>G rs886049243
NM_000719.7(CACNA1C):c.*5734G>C rs886049244
NM_000719.7(CACNA1C):c.*5811G>A rs886049245
NM_000719.7(CACNA1C):c.*5841G>A rs886049246
NM_000719.7(CACNA1C):c.*5889G>A rs886049247
NM_000719.7(CACNA1C):c.*605G>C rs886049213
NM_000719.7(CACNA1C):c.*6102G>A rs886049248
NM_000719.7(CACNA1C):c.*6281G>A rs886049249
NM_000719.7(CACNA1C):c.*630G>A rs886049214
NM_000719.7(CACNA1C):c.*6557C>G rs886049250
NM_000719.7(CACNA1C):c.*6591A>G rs886049251
NM_000719.7(CACNA1C):c.*828G>A rs886049216
NM_000719.7(CACNA1C):c.*896A>T rs886049217
NM_000719.7(CACNA1C):c.*960A>G rs886049218
NM_000719.7(CACNA1C):c.*977A>G rs886049219
NM_000719.7(CACNA1C):c.-214A>G rs886049149
NM_000719.7(CACNA1C):c.-233C>T rs886049148
NM_000719.7(CACNA1C):c.101C>T (p.Ala34Val) rs551396698
NM_000719.7(CACNA1C):c.1024G>A (p.Gly342Ser)
NM_000719.7(CACNA1C):c.1031C>T (p.Thr344Ile) rs200935321
NM_000719.7(CACNA1C):c.1052T>A (p.Phe351Tyr) rs1555672376
NM_000719.7(CACNA1C):c.1065G>A (p.Thr355=) rs757055492
NM_000719.7(CACNA1C):c.107C>T (p.Ala36Val) rs755028000
NM_000719.7(CACNA1C):c.108G>A (p.Ala36=) rs781395450
NM_000719.7(CACNA1C):c.1097C>T (p.Thr366Met) rs1429990170
NM_000719.7(CACNA1C):c.1113+4C>T rs747800763
NM_000719.7(CACNA1C):c.1114-355G>A rs202180580
NM_000719.7(CACNA1C):c.1126G>A (p.Val376Ile)
NM_000719.7(CACNA1C):c.1130G>C (p.Gly377Ala) rs1555689622
NM_000719.7(CACNA1C):c.1141C>T (p.Pro381Ser) rs786205775
NM_000719.7(CACNA1C):c.1218-6C>T rs727503833
NM_000719.7(CACNA1C):c.122A>T (p.Glu41Val)
NM_000719.7(CACNA1C):c.1253G>C (p.Arg418Pro) rs398123516
NM_000719.7(CACNA1C):c.1255G>A (p.Gly419Arg) rs786205776
NM_000719.7(CACNA1C):c.130C>G (p.Pro44Ala) rs1057518456
NM_000719.7(CACNA1C):c.1333G>A (p.Glu445Lys) rs1238581042
NM_000719.7(CACNA1C):c.1337A>G (p.Asp446Gly) rs1060503452
NM_000719.7(CACNA1C):c.1341C>T (p.Ile447=) rs377643814
NM_000719.7(CACNA1C):c.1342G>A (p.Asp448Asn) rs786205746
NM_000719.7(CACNA1C):c.1348G>C (p.Glu450Gln) rs369680588
NM_000719.7(CACNA1C):c.1359C>T (p.Asp453=) rs200330469
NM_000719.7(CACNA1C):c.1366A>C (p.Met456Leu) rs746887726
NM_000719.7(CACNA1C):c.1381C>A (p.Pro461Thr) rs776242172
NM_000719.7(CACNA1C):c.1384C>G (p.Arg462Gly) rs761430418
NM_000719.7(CACNA1C):c.1385G>A (p.Arg462Gln) rs794727961
NM_000719.7(CACNA1C):c.1396A>G (p.Met466Val)
NM_000719.7(CACNA1C):c.13A>C (p.Asn5His) rs886049150
NM_000719.7(CACNA1C):c.1410G>T (p.Glu470Asp) rs1555774889
NM_000719.7(CACNA1C):c.1412C>A (p.Thr471Asn)
NM_000719.7(CACNA1C):c.1414G>A (p.Glu472Lys)
NM_000719.7(CACNA1C):c.1420G>A (p.Val474Ile) rs765581751
NM_000719.7(CACNA1C):c.1420G>T (p.Val474Phe) rs765581751
NM_000719.7(CACNA1C):c.1429G>A (p.Glu477Lys)
NM_000719.7(CACNA1C):c.1435G>A (p.Val479Met) rs752677964
NM_000719.7(CACNA1C):c.1453G>A (p.Glu485Lys) rs763065970
NM_000719.7(CACNA1C):c.1468G>A (p.Gly490Arg) rs121912775
NM_000719.7(CACNA1C):c.1477C>A (p.Leu493Met)
NM_000719.7(CACNA1C):c.1481+621C>T rs200329394
NM_000719.7(CACNA1C):c.1481C>T (p.Ala494Val) rs762879256
NM_000719.7(CACNA1C):c.1485C>A (p.His495Gln) rs373335068
NM_000719.7(CACNA1C):c.1486C>T (p.Arg496Trp) rs760888275
NM_000719.7(CACNA1C):c.1487G>A (p.Arg496Gln) rs369255950
NM_000719.7(CACNA1C):c.14A>G (p.Asn5Ser) rs1555075958
NM_000719.7(CACNA1C):c.1509-12T>G rs200412525
NM_000719.7(CACNA1C):c.1510C>T (p.Arg504Cys)
NM_000719.7(CACNA1C):c.1520G>A (p.Arg507His) rs768830617
NM_000719.7(CACNA1C):c.1532G>A (p.Arg511Gln) rs786205747
NM_000719.7(CACNA1C):c.154T>C (p.Trp52Arg) rs786205765
NM_000719.7(CACNA1C):c.1553G>A (p.Arg518His) rs1057517711
NM_000719.7(CACNA1C):c.1554C>T (p.Arg518=) rs398123517
NM_000719.7(CACNA1C):c.1555G>A (p.Ala519Thr) rs371702432
NM_000719.7(CACNA1C):c.1558G>A (p.Ala520Thr) rs755167125
NM_000719.7(CACNA1C):c.1582T>G (p.Trp528Gly) rs755846732
NM_000719.7(CACNA1C):c.15_16del (p.Thr6fs)
NM_000719.7(CACNA1C):c.162G>A (p.Ala54=) rs760297846
NM_000719.7(CACNA1C):c.1649A>G (p.Asn550Ser)
NM_000719.7(CACNA1C):c.1673C>T (p.Thr558Met) rs572234918
NM_000719.7(CACNA1C):c.1693G>A (p.Ala565Thr) rs777945001
NM_000719.7(CACNA1C):c.1703C>T (p.Thr568Met) rs749561588
NM_000719.7(CACNA1C):c.1707A>G (p.Ala569=) rs375534041
NM_000719.7(CACNA1C):c.1722G>T (p.Lys574Asn) rs1568469515
NM_000719.7(CACNA1C):c.1729A>G (p.Ser577Gly) rs772171893
NM_000719.7(CACNA1C):c.1752C>T (p.Phe584=) rs886043677
NM_000719.7(CACNA1C):c.1753G>A (p.Val585Met) rs763738559
NM_000719.7(CACNA1C):c.175G>T (p.Ala59Ser) rs786205766
NM_000719.7(CACNA1C):c.1783G>A (p.Val595Ile) rs201392574
NM_000719.7(CACNA1C):c.1823C>T (p.Thr608Ile) rs757507674
NM_000719.7(CACNA1C):c.1841T>C (p.Leu614Pro) rs1057518994
NM_000719.7(CACNA1C):c.1841T>G (p.Leu614Arg) rs1057518994
NM_000719.7(CACNA1C):c.1852G>A (p.Val618Met)
NM_000719.7(CACNA1C):c.1864G>A (p.Val622Ile) rs768270021
NM_000719.7(CACNA1C):c.1888A>G (p.Ile630Val) rs1555800433
NM_000719.7(CACNA1C):c.1917C>A (p.Asn639Lys)
NM_000719.7(CACNA1C):c.1917C>G (p.Asn639Lys) rs1057524804
NM_000719.7(CACNA1C):c.1931T>G (p.Leu644Trp) rs786205749
NM_000719.7(CACNA1C):c.1937A>C (p.Asn646Thr)
NM_000719.7(CACNA1C):c.1951A>G (p.Ile651Val) rs1555825315
NM_000719.7(CACNA1C):c.1952T>A (p.Ile651Asn) rs1060503443
NM_000719.7(CACNA1C):c.1990A>G (p.Ile664Val) rs1555825533
NM_000719.7(CACNA1C):c.202G>A (p.Ala68Thr) rs752000790
NM_000719.7(CACNA1C):c.2067C>T (p.Phe689=) rs112170830
NM_000719.7(CACNA1C):c.2068G>A (p.Asp690Asn) rs369638898
NM_000719.7(CACNA1C):c.2073C>T (p.Asn691=) rs794727117
NM_000719.7(CACNA1C):c.209A>G (p.Asn70Ser) rs1265762175
NM_000719.7(CACNA1C):c.2113G>A (p.Gly705Arg) rs786205750
NM_000719.7(CACNA1C):c.211G>A (p.Ala71Thr) rs1064796234
NM_000719.7(CACNA1C):c.212C>T (p.Ala71Val) rs755579963
NM_000719.7(CACNA1C):c.2229C>T (p.Ile743=) rs759734767
NM_000719.7(CACNA1C):c.2232A>C (p.Leu744=) rs370145265
NM_000719.7(CACNA1C):c.2234T>C (p.Leu745Pro) rs398123518
NM_000719.7(CACNA1C):c.2251A>G (p.Ile751Val) rs794727167
NM_000719.7(CACNA1C):c.2269G>C (p.Ala757Pro)
NM_000719.7(CACNA1C):c.2278G>A (p.Glu760Lys) rs1555832882
NM_000719.7(CACNA1C):c.2280G>A (p.Glu760=) rs141633456
NM_000719.7(CACNA1C):c.2286_2288del (p.Thr763del) rs1060503445
NM_000719.7(CACNA1C):c.2311_2313GAG[1] (p.Glu772del) rs786205770
NM_000719.7(CACNA1C):c.2316G>T (p.Glu772Asp) rs1219744448
NM_000719.7(CACNA1C):c.2317_2319del (p.Lys773del) rs786205771
NM_000719.7(CACNA1C):c.2327A>G (p.Lys776Arg) rs786205751
NM_000719.7(CACNA1C):c.232T>A (p.Ser78Thr) rs1555193020
NM_000719.7(CACNA1C):c.2333T>C (p.Leu778Pro) rs1060503447
NM_000719.7(CACNA1C):c.2350C>T (p.Pro784Ser) rs749935207
NM_000719.7(CACNA1C):c.236C>T (p.Thr79Met) rs749031775
NM_000719.7(CACNA1C):c.2391G>A (p.Gly797=) rs374857905
NM_000719.7(CACNA1C):c.2395T>A (p.Ser799Thr)
NM_000719.7(CACNA1C):c.2396C>A (p.Ser799Tyr) rs398123519
NM_000719.7(CACNA1C):c.2398A>C (p.Lys800Gln) rs779009338
NM_000719.7(CACNA1C):c.2401_2403GAG[1] (p.Glu802del) rs771014370
NM_000719.7(CACNA1C):c.242G>A (p.Arg81Gln) rs786205767
NM_000719.7(CACNA1C):c.2430G>A (p.Thr810=) rs775571017
NM_000719.7(CACNA1C):c.2437G>A (p.Gly813Arg) rs545511851
NM_000719.7(CACNA1C):c.2438G>A (p.Gly813Glu) rs1568590011
NM_000719.7(CACNA1C):c.2452G>A (p.Ala818Thr) rs765111782
NM_000719.7(CACNA1C):c.2460+6G>A rs369246066
NM_000719.7(CACNA1C):c.2467A>G (p.Met823Val) rs786205752
NM_000719.7(CACNA1C):c.247C>T (p.Arg83Trp) rs886039214
NM_000719.7(CACNA1C):c.2486A>G (p.Asn829Ser)
NM_000719.7(CACNA1C):c.2517C>A (p.Asn839Lys) rs774002530
NM_000719.7(CACNA1C):c.2542_2544GAG[2] (p.Glu850del) rs575583988
NM_000719.7(CACNA1C):c.2545G>A (p.Glu849Lys)
NM_000719.7(CACNA1C):c.2547G>A (p.Glu849=) rs759093479
NM_000719.7(CACNA1C):c.2550G>C (p.Glu850Asp)
NM_000719.7(CACNA1C):c.2566G>A (p.Gly856Ser) rs145549773
NM_000719.7(CACNA1C):c.2573G>A (p.Arg858His) rs786205753
NM_000719.7(CACNA1C):c.2579G>A (p.Arg860Gln) rs730880056
NM_000719.7(CACNA1C):c.2579G>C (p.Arg860Pro) rs730880056
NM_000719.7(CACNA1C):c.257A>G (p.Tyr86Cys) rs768230910
NM_000719.7(CACNA1C):c.2581C>T (p.Pro861Ser) rs786205754
NM_000719.7(CACNA1C):c.2633G>C (p.Ser878Thr) rs1060503446
NM_000719.7(CACNA1C):c.2633G>T (p.Ser878Ile)
NM_000719.7(CACNA1C):c.2635G>A (p.Ala879Thr) rs1568641351
NM_000719.7(CACNA1C):c.2674C>G (p.Gln892Glu) rs1555857966
NM_000719.7(CACNA1C):c.2684G>A (p.Arg895His) rs786205755
NM_000719.7(CACNA1C):c.2734C>A (p.Leu912Ile) rs786205264
NM_000719.7(CACNA1C):c.275A>C (p.Gln92Pro)
NM_000719.7(CACNA1C):c.2760G>A (p.Glu920=) rs1156871556
NM_000719.7(CACNA1C):c.2764C>G (p.Pro922Ala) rs1568658701
NM_000719.7(CACNA1C):c.2766G>A (p.Pro922=) rs184684058
NM_000719.7(CACNA1C):c.2793T>G (p.His931Gln)
NM_000719.7(CACNA1C):c.2795T>C (p.Ile932Thr) rs786205756
NM_000719.7(CACNA1C):c.2813T>C (p.Ile938Thr) rs377165829
NM_000719.7(CACNA1C):c.2824A>G (p.Thr942Ala)
NM_000719.7(CACNA1C):c.2827A>G (p.Ile943Val) rs786205757
NM_000719.7(CACNA1C):c.2837T>C (p.Ile946Thr)
NM_000719.7(CACNA1C):c.2935G>A (p.Val979Met) rs1555874590
NM_000719.7(CACNA1C):c.2958C>T (p.Ile986=) rs886049203
NM_000719.7(CACNA1C):c.2965A>G (p.Ser989Gly) rs1555878849
NM_000719.7(CACNA1C):c.2975A>G (p.Asn992Ser) rs1555878870
NM_000719.7(CACNA1C):c.2977G>C (p.Val993Leu) rs1555878893
NM_000719.7(CACNA1C):c.299C>T (p.Pro100Leu)
NM_000719.7(CACNA1C):c.2T>C (p.Met1Thr) rs761378545
NM_000719.7(CACNA1C):c.300G>A (p.Pro100=) rs764323907
NM_000719.7(CACNA1C):c.3049-10C>T rs186741807
NM_000719.7(CACNA1C):c.3061T>G (p.Cys1021Gly) rs1057518301
NM_000719.7(CACNA1C):c.3156+6G>C rs398123520
NM_000719.7(CACNA1C):c.3161A>G (p.Lys1054Arg) rs1305965146
NM_000719.7(CACNA1C):c.3200C>T (p.Ala1067Val) rs750998195
NM_000719.7(CACNA1C):c.3201G>A (p.Ala1067=) rs758461435
NM_000719.7(CACNA1C):c.3202del (p.Glu1068fs) rs1555881808
NM_000719.7(CACNA1C):c.3210-3C>T
NM_000719.7(CACNA1C):c.3216C>A (p.Asn1072Lys) rs1555882391
NM_000719.7(CACNA1C):c.3220A>G (p.Ile1074Val) rs786205779
NM_000719.7(CACNA1C):c.3234C>A (p.Asp1078Glu)
NM_000719.7(CACNA1C):c.3234C>T (p.Asp1078=) rs111606207
NM_000719.7(CACNA1C):c.3235G>A (p.Gly1079Arg) rs781440831
NM_000719.7(CACNA1C):c.3258C>T (p.Ile1086=) rs757290350
NM_000719.7(CACNA1C):c.3281G>A (p.Ser1094Asn) rs1165009288
NM_000719.7(CACNA1C):c.3295G>A (p.Asp1099Asn) rs771549676
NM_000719.7(CACNA1C):c.3311C>T (p.Ala1104Val)
NM_000719.7(CACNA1C):c.3331G>A (p.Val1111Ile) rs766023530
NM_000719.7(CACNA1C):c.3343G>A (p.Glu1115Lys) rs199473391
NM_000719.7(CACNA1C):c.3344A>G (p.Glu1115Gly) rs1555882813
NM_000719.7(CACNA1C):c.3347G>C (p.Gly1116Ala) rs878854141
NM_000719.7(CACNA1C):c.3357G>C (p.Glu1119Asp) rs1555884341
NM_000719.7(CACNA1C):c.3367C>T (p.Arg1123Cys) rs1057518445
NM_000719.7(CACNA1C):c.3375C>T (p.Ile1125=) rs398123521
NM_000719.7(CACNA1C):c.3391G>A (p.Asp1131Asn) rs776318939
NM_000719.7(CACNA1C):c.3398G>A (p.Gly1133Asp) rs1555884489
NM_000719.7(CACNA1C):c.3420G>A (p.Val1140=) rs1555884613
NM_000719.7(CACNA1C):c.3424A>C (p.Ile1142Leu) rs752247655
NM_000719.7(CACNA1C):c.3448_3450ATC[3] (p.Ile1153del)
NM_000719.7(CACNA1C):c.3457A>G (p.Ile1153Val) rs370798052
NM_000719.7(CACNA1C):c.3460G>T (p.Ala1154Ser)
NM_000719.7(CACNA1C):c.3461C>T (p.Ala1154Val) rs786205758
NM_000719.7(CACNA1C):c.3510G>A (p.Gln1170=)
NM_000719.7(CACNA1C):c.3531C>T (p.Tyr1177=) rs754527651
NM_000719.7(CACNA1C):c.3599G>A (p.Arg1200Gln)
NM_000719.7(CACNA1C):c.3631A>G (p.Lys1211Glu) rs786205759
NM_000719.7(CACNA1C):c.363C>T (p.Val121=) rs886042281
NM_000719.7(CACNA1C):c.3642C>T (p.Tyr1214=) rs56394008
NM_000719.7(CACNA1C):c.3643G>A (p.Val1215Met) rs747533547
NM_000719.7(CACNA1C):c.3671del (p.Leu1224fs) rs886043670
NM_000719.7(CACNA1C):c.3678C>G (p.Phe1226Leu) rs775309900
NM_000719.7(CACNA1C):c.3679G>A (p.Val1227Ile) rs373124557
NM_000719.7(CACNA1C):c.3681C>T (p.Val1227=) rs886049204
NM_000719.7(CACNA1C):c.3701T>A (p.Ile1234Asn) rs786205780
NM_000719.7(CACNA1C):c.3717+11G>A rs763622598
NM_000719.7(CACNA1C):c.3717+1_3717+2insA rs1555887068
NM_000719.7(CACNA1C):c.3717+4A>G rs1184709095
NM_000719.7(CACNA1C):c.3718-12C>T rs774165526
NM_000719.7(CACNA1C):c.3724G>A (p.Gly1242Ser) rs1131691881
NM_000719.7(CACNA1C):c.3747C>T (p.Ile1249=) rs370576211
NM_000719.7(CACNA1C):c.3780C>A (p.Gly1260=) rs201258230
NM_000719.7(CACNA1C):c.3790G>A (p.Val1264Met) rs760543068
NM_000719.7(CACNA1C):c.3824C>T (p.Pro1275Leu) rs1568791833
NM_000719.7(CACNA1C):c.3828+6C>T rs1060503449
NM_000719.7(CACNA1C):c.3829-584G>A rs786205761
NM_000719.7(CACNA1C):c.3829-626G>A rs786205760
NM_000719.7(CACNA1C):c.3862G>A (p.Ala1288Thr) rs367895193
NM_000719.7(CACNA1C):c.3874G>T (p.Val1292Leu) rs777138966
NM_000719.7(CACNA1C):c.3898A>G (p.Ile1300Val)
NM_000719.7(CACNA1C):c.3904G>A (p.Glu1302Lys) rs886038890
NM_000719.7(CACNA1C):c.3930A>T (p.Gln1310His) rs369262825
NM_000719.7(CACNA1C):c.3934T>C (p.Ser1312Pro) rs749298267
NM_000719.7(CACNA1C):c.3943A>G (p.Met1315Val) rs756734279
NM_000719.7(CACNA1C):c.3946-10C>G rs370630496
NM_000719.7(CACNA1C):c.3946-10C>T rs370630496
NM_000719.7(CACNA1C):c.3946-12G>A rs41276706
NM_000719.7(CACNA1C):c.3946-44C>T rs760982440
NM_000719.7(CACNA1C):c.3946-45C>G rs201551454
NM_000719.7(CACNA1C):c.3946-51C>T rs202216172
NM_000719.7(CACNA1C):c.3949G>A (p.Ala1317Thr) rs749588699
NM_000719.7(CACNA1C):c.3962C>T (p.Ser1321Phe) rs779278894
NM_000719.7(CACNA1C):c.3969C>T (p.Ile1323=) rs201345843
NM_000719.7(CACNA1C):c.4040G>A (p.Arg1347Gln) rs777058699
NM_000719.7(CACNA1C):c.4075-4C>A rs369044605
NM_000719.7(CACNA1C):c.4117A>G (p.Ile1373Val)
NM_000719.7(CACNA1C):c.4140+4G>A rs111442547
NM_000719.7(CACNA1C):c.4152A>G (p.Lys1384=) rs775331521
NM_000719.7(CACNA1C):c.4165G>T (p.Asp1389Tyr)
NM_000719.7(CACNA1C):c.4216G>A (p.Val1406Met) rs753204879
NM_000719.7(CACNA1C):c.4232+4G>A rs550612732
NM_000719.7(CACNA1C):c.4254G>A (p.Trp1418Ter) rs1131692329
NM_000719.7(CACNA1C):c.4309C>T (p.Pro1437Ser) rs398123522
NM_000719.7(CACNA1C):c.4322C>T (p.Thr1441Met) rs727503835
NM_000719.7(CACNA1C):c.4323G>A (p.Thr1441=) rs753892795
NM_000719.7(CACNA1C):c.4334C>T (p.Thr1445Ile) rs1555994788
NM_000719.7(CACNA1C):c.4336C>A (p.Pro1446Thr)
NM_000719.7(CACNA1C):c.4336C>G (p.Pro1446Ala)
NM_000719.7(CACNA1C):c.4369A>T (p.Ile1457Phe)
NM_000719.7(CACNA1C):c.4393T>C (p.Phe1465Leu) rs886038809
NM_000719.7(CACNA1C):c.4411T>C (p.Phe1471Leu) rs1555997051
NM_000719.7(CACNA1C):c.447A>G (p.Glu149=) rs1297869395
NM_000719.7(CACNA1C):c.4526+12G>C rs748926089
NM_000719.7(CACNA1C):c.4565G>A (p.Arg1522Gln) rs1420232852
NM_000719.7(CACNA1C):c.460G>A (p.Ala154Thr) rs1064796583
NM_000719.7(CACNA1C):c.4611C>T (p.Arg1537=) rs372702466
NM_000719.7(CACNA1C):c.4624-4G>A rs886049205
NM_000719.7(CACNA1C):c.4624-8G>A rs529345041
NM_000719.7(CACNA1C):c.4625G>A (p.Arg1542His)
NM_000719.7(CACNA1C):c.4625G>T (p.Arg1542Leu) rs771053661
NM_000719.7(CACNA1C):c.4641C>T (p.Asn1547=) rs202194703
NM_000719.7(CACNA1C):c.4659C>T (p.Asp1553=) rs563090568
NM_000719.7(CACNA1C):c.4705G>A (p.Ala1569Thr)
NM_000719.7(CACNA1C):c.4726+13G>A rs561365937
NM_000719.7(CACNA1C):c.4726+9G>A rs369267978
NM_000719.7(CACNA1C):c.4727-10C>T rs749903718
NM_000719.7(CACNA1C):c.4727-6C>T rs886042224
NM_000719.7(CACNA1C):c.4727-9G>A rs757966245
NM_000719.7(CACNA1C):c.4757G>A (p.Arg1586Gln) rs375656252
NM_000719.7(CACNA1C):c.4760C>T (p.Ala1587Val) rs751224055
NM_000719.7(CACNA1C):c.4761G>A (p.Ala1587=) rs756364065
NM_000719.7(CACNA1C):c.4773G>T (p.Lys1591Asn) rs786205763
NM_000719.7(CACNA1C):c.4782G>A (p.Lys1594=) rs1336965329
NM_000719.7(CACNA1C):c.4819C>G (p.Pro1607Ala)
NM_000719.7(CACNA1C):c.4819C>T (p.Pro1607Ser)
NM_000719.7(CACNA1C):c.482G>A (p.Arg161Gln) rs777210376
NM_000719.7(CACNA1C):c.4837G>A (p.Val1613Ile) rs757629968
NM_000719.7(CACNA1C):c.484G>A (p.Val162Met)
NM_000719.7(CACNA1C):c.4910_4912del (p.Gln1637_Gly1638delinsArg) rs786205772
NM_000719.7(CACNA1C):c.4917T>C (p.Leu1639=) rs886049206
NM_000719.7(CACNA1C):c.4927C>T (p.Pro1643Ser) rs786205764
NM_000719.7(CACNA1C):c.4942G>A (p.Ala1648Thr) rs370432385
NM_000719.7(CACNA1C):c.4984G>A (p.Gly1662Arg) rs778011390
NM_000719.7(CACNA1C):c.4999C>T (p.Arg1667Trp) rs917884780
NM_000719.7(CACNA1C):c.50-3C>T rs780161540
NM_000719.7(CACNA1C):c.5023G>A (p.Ala1675Thr) rs773930851
NM_000719.7(CACNA1C):c.5026_5028GAG[2] (p.Glu1678del) rs786205773
NM_000719.7(CACNA1C):c.5033A>G (p.Glu1678Gly) rs786205781
NM_000719.7(CACNA1C):c.5039A>G (p.Asp1680Gly) rs1556050949
NM_000719.7(CACNA1C):c.5065G>A (p.Ala1689Thr) rs368700869
NM_000719.7(CACNA1C):c.5084T>C (p.Ile1695Thr) rs1479799949
NM_000719.7(CACNA1C):c.5091+3G>A
NM_000719.7(CACNA1C):c.5091+8G>A rs768117202
NM_000719.7(CACNA1C):c.5098G>A (p.Gly1700Ser) rs761966966
NM_000719.7(CACNA1C):c.50G>A (p.Gly17Asp) rs747083495
NM_000719.7(CACNA1C):c.5106G>A (p.Leu1702=) rs541967618
NM_000719.7(CACNA1C):c.5110G>A (p.Gly1704Ser) rs758268349
NM_000719.7(CACNA1C):c.5119G>A (p.Val1707Ile) rs147896322
NM_000719.7(CACNA1C):c.5120T>C (p.Val1707Ala) rs531161884
NM_000719.7(CACNA1C):c.512C>T (p.Thr171Met) rs199586997
NM_000719.7(CACNA1C):c.5137G>A (p.Asp1713Asn) rs747708938
NM_000719.7(CACNA1C):c.5138A>G (p.Asp1713Gly) rs769297492
NM_000719.7(CACNA1C):c.5139C>A (p.Asp1713Glu)
NM_000719.7(CACNA1C):c.5140G>A (p.Gly1714Ser) rs533676935
NM_000719.7(CACNA1C):c.5143C>T (p.Arg1715Trp) rs373996684
NM_000719.7(CACNA1C):c.5144G>A (p.Arg1715Gln) rs376706496
NM_000719.7(CACNA1C):c.5145G>A (p.Arg1715=) rs761205516
NM_000719.7(CACNA1C):c.5147_5186dup (p.His1729fs) rs1556099231
NM_000719.7(CACNA1C):c.5149G>A (p.Ala1717Thr) rs200865354
NM_000719.7(CACNA1C):c.5150C>G (p.Ala1717Gly) rs201492706
NM_000719.7(CACNA1C):c.5150C>T (p.Ala1717Val) rs201492706
NM_000719.7(CACNA1C):c.5158C>G (p.Gln1720Glu) rs1008863902
NM_000719.7(CACNA1C):c.5164T>G (p.Phe1722Val) rs751493277
NM_000719.7(CACNA1C):c.5198C>T (p.Ala1733Val) rs201049603
NM_000719.7(CACNA1C):c.5201del (p.Gly1734fs) rs1556105540
NM_000719.7(CACNA1C):c.5202C>T (p.Gly1734=) rs769124319
NM_000719.7(CACNA1C):c.5214C>A (p.Gly1738=) rs199538058
NM_000719.7(CACNA1C):c.5225C>T (p.Ser1742Leu)
NM_000719.7(CACNA1C):c.5245G>A (p.Val1749Met) rs1556109769
NM_000719.7(CACNA1C):c.5255C>T (p.Thr1752Ile) rs752694570
NM_000719.7(CACNA1C):c.5284G>C (p.Gly1762Arg) rs374863121
NM_000719.7(CACNA1C):c.5307C>T (p.Asn1769=) rs530924728
NM_000719.7(CACNA1C):c.5308G>A (p.Ala1770Thr)
NM_000719.7(CACNA1C):c.5329C>T (p.Arg1777Cys) rs775251529
NM_000719.7(CACNA1C):c.5338C>T (p.Arg1780Cys) rs371760034
NM_000719.7(CACNA1C):c.5339G>T (p.Arg1780Leu)
NM_000719.7(CACNA1C):c.5375A>G (p.Glu1792Gly) rs374177870
NM_000719.7(CACNA1C):c.537C>T (p.Ile179=) rs369673473
NM_000719.7(CACNA1C):c.538G>A (p.Ala180Thr) rs786205769
NM_000719.7(CACNA1C):c.5398C>T (p.Pro1800Ser)
NM_000719.7(CACNA1C):c.53C>T (p.Ser18Phe) rs1216229121
NM_000719.7(CACNA1C):c.5407C>T (p.Arg1803Trp)
NM_000719.7(CACNA1C):c.5408G>A (p.Arg1803Gln) rs201918158
NM_000719.7(CACNA1C):c.5408G>C (p.Arg1803Pro) rs201918158
NM_000719.7(CACNA1C):c.5411T>C (p.Val1804Ala) rs756492434
NM_000719.7(CACNA1C):c.5423C>T (p.Ala1808Val)
NM_000719.7(CACNA1C):c.5424G>A (p.Ala1808=) rs587780881
NM_000719.7(CACNA1C):c.5435G>A (p.Ser1812Asn) rs1556123007
NM_000719.7(CACNA1C):c.5441A>G (p.Asn1814Ser) rs780210232
NM_000719.7(CACNA1C):c.5444+599C>A rs551355331
NM_000719.7(CACNA1C):c.5444G>C (p.Arg1815Thr) rs374425919
NM_000719.7(CACNA1C):c.5456G>A (p.Arg1819Gln) rs764212214
NM_000719.7(CACNA1C):c.5477C>T (p.Ala1826Val) rs750289082
NM_000719.7(CACNA1C):c.5480G>A (p.Gly1827Asp)
NM_000719.7(CACNA1C):c.5486A>G (p.Glu1829Gly) rs1350126839
NM_000719.7(CACNA1C):c.5492C>T (p.Thr1831Met) rs186015395
NM_000719.7(CACNA1C):c.5503G>A (p.Glu1835Lys) rs1060503442
NM_000719.7(CACNA1C):c.5525A>C (p.Asn1842Thr) rs886049207
NM_000719.7(CACNA1C):c.5529T>C (p.His1843=) rs371831239
NM_000719.7(CACNA1C):c.5534C>T (p.Thr1845Met) rs779315017
NM_000719.7(CACNA1C):c.5549A>C (p.Glu1850Ala)
NM_000719.7(CACNA1C):c.5557C>G (p.Leu1853Val)
NM_000719.7(CACNA1C):c.5561T>C (p.Leu1854Pro) rs1556205510
NM_000719.7(CACNA1C):c.5573+5G>C rs786205768
NM_000719.7(CACNA1C):c.5593G>A (p.Glu1865Lys) rs200231105
NM_000719.7(CACNA1C):c.5599C>T (p.Arg1867Trp) rs369421219
NM_000719.7(CACNA1C):c.5600G>A (p.Arg1867Gln) rs535350857
NM_000719.7(CACNA1C):c.5619_5621GGA[1] (p.Glu1874del) rs757172314
NM_000719.7(CACNA1C):c.5626A>G (p.Lys1876Glu) rs869025368
NM_000719.7(CACNA1C):c.5644T>C (p.Ser1882Pro) rs369438564
NM_000719.7(CACNA1C):c.5648C>T (p.Pro1883Leu)
NM_000719.7(CACNA1C):c.5657G>C (p.Gly1886Ala)
NM_000719.7(CACNA1C):c.5671G>C (p.Ala1891Pro) rs542914369
NM_000719.7(CACNA1C):c.567C>T (p.Ala189=) rs886049202
NM_000719.7(CACNA1C):c.5684G>A (p.Arg1895Gln) rs753954220
NM_000719.7(CACNA1C):c.5706A>G (p.Glu1902=) rs537002656
NM_000719.7(CACNA1C):c.5717G>A (p.Arg1906Gln) rs758166168
NM_000719.7(CACNA1C):c.5728C>T (p.Arg1910Ter) rs1556291640
NM_000719.7(CACNA1C):c.5729G>A (p.Arg1910Gln) rs190288386
NM_000719.7(CACNA1C):c.5731G>C (p.Gly1911Arg) rs374528680
NM_000719.7(CACNA1C):c.5737G>A (p.Asp1913Asn) rs181502604
NM_000719.7(CACNA1C):c.5741T>G (p.Ile1914Ser)
NM_000719.7(CACNA1C):c.5772G>C (p.Leu1924=) rs757373786
NM_000719.7(CACNA1C):c.5785-10G>A rs762376206
NM_000719.7(CACNA1C):c.5827C>T (p.His1943Tyr) rs200666365
NM_000719.7(CACNA1C):c.5869G>C (p.Ala1957Pro)
NM_000719.7(CACNA1C):c.5873C>T (p.Thr1958Ile) rs377173230
NM_000719.7(CACNA1C):c.5883C>T (p.Ser1961=) rs1291974001
NM_000719.7(CACNA1C):c.5885G>A (p.Arg1962Gln) rs199776761
NM_000719.7(CACNA1C):c.5918G>A (p.Arg1973Gln) rs112414325
NM_000719.7(CACNA1C):c.5924A>C (p.Glu1975Ala) rs1556308664
NM_000719.7(CACNA1C):c.5957G>A (p.Ser1986Asn) rs755280013
NM_000719.7(CACNA1C):c.5975G>T (p.Cys1992Phe) rs375818733
NM_000719.7(CACNA1C):c.5996C>T (p.Thr1999Ile) rs532551057
NM_000719.7(CACNA1C):c.6001G>A (p.Gly2001Ser)
NM_000719.7(CACNA1C):c.6006C>T (p.Gly2002=) rs373253192
NM_000719.7(CACNA1C):c.6007G>A (p.Gly2003Arg) rs886038918
NM_000719.7(CACNA1C):c.6011G>T (p.Gly2004Val) rs374991642
NM_000719.7(CACNA1C):c.6019G>A (p.Ala2007Thr) rs750411964
NM_000719.7(CACNA1C):c.6022G>A (p.Ala2008Thr) rs765885227
NM_000719.7(CACNA1C):c.6026G>A (p.Arg2009Gln) rs535291848
NM_000719.7(CACNA1C):c.6031G>A (p.Val2011Ile) rs193922615
NM_000719.7(CACNA1C):c.6034C>T (p.Arg2012Trp) rs553500083
NM_000719.7(CACNA1C):c.6040G>A (p.Val2014Ile) rs199473660
NM_000719.7(CACNA1C):c.6040G>T (p.Val2014Phe)
NM_000719.7(CACNA1C):c.6059G>A (p.Ser2020Asn) rs373503739
NM_000719.7(CACNA1C):c.6060_6065del (p.Gln2021_Ala2022del) rs1569288182
NM_000719.7(CACNA1C):c.6064G>C (p.Ala2022Pro) rs758974396
NM_000719.7(CACNA1C):c.6068G>A (p.Gly2023Glu)
NM_000719.7(CACNA1C):c.6090C>T (p.His2030=) rs750835120
NM_000719.7(CACNA1C):c.609G>A (p.Val203=) rs1417477759
NM_000719.7(CACNA1C):c.6116C>G (p.Ala2039Gly) rs549476254
NM_000719.7(CACNA1C):c.6117+5G>C
NM_000719.7(CACNA1C):c.6119T>G (p.Val2040Gly)
NM_000719.7(CACNA1C):c.6140G>A (p.Gly2047Glu) rs1166663389
NM_000719.7(CACNA1C):c.6161A>G (p.Lys2054Arg) rs200588235
NM_000719.7(CACNA1C):c.6193G>A (p.Asp2065Asn) rs1060503451
NM_000719.7(CACNA1C):c.6197C>T (p.Ala2066Val) rs1216146146
NM_000719.7(CACNA1C):c.6235G>A (p.Asp2079Asn)
NM_000719.7(CACNA1C):c.6235_6237del (p.Asp2079del) rs886049208
NM_000719.7(CACNA1C):c.6239A>G (p.Asn2080Ser) rs886049209
NM_000719.7(CACNA1C):c.6250G>A (p.Gly2084Arg) rs1060503444
NM_000719.7(CACNA1C):c.6254G>A (p.Gly2085Asp) rs776275799
NM_000719.7(CACNA1C):c.6260_6280del (p.Pro2087_Ala2093del) rs1556333500
NM_000719.7(CACNA1C):c.6272A>G (p.Asn2091Ser) rs201090446
NM_000719.7(CACNA1C):c.6275G>A (p.Gly2092Asp) rs755430543
NM_000719.7(CACNA1C):c.6275G>C (p.Gly2092Ala) rs755430543
NM_000719.7(CACNA1C):c.6308C>T (p.Ala2103Val) rs1402303798
NM_000719.7(CACNA1C):c.6323C>T (p.Ala2108Val) rs1453140106
NM_000719.7(CACNA1C):c.6329dup (p.Glu2111fs) rs771708175
NM_000719.7(CACNA1C):c.6334G>C (p.Glu2112Gln) rs1279028766
NM_000719.7(CACNA1C):c.6338A>C (p.Asp2113Ala) rs972053240
NM_000719.7(CACNA1C):c.6344G>A (p.Gly2115Asp)
NM_000719.7(CACNA1C):c.6344G>C (p.Gly2115Ala) rs199694744
NM_000719.7(CACNA1C):c.6355G>A (p.Ala2119Thr) rs1470889027
NM_000719.7(CACNA1C):c.6368C>G (p.Pro2123Arg)
NM_000719.7(CACNA1C):c.6371G>A (p.Ser2124Asn) rs886049210
NM_000719.7(CACNA1C):c.6388G>A (p.Asp2130Asn) rs199473392
NM_000719.7(CACNA1C):c.6394A>G (p.Arg2132Gly)
NM_000719.7(CACNA1C):c.6403G>A (p.Val2135Ile)
NM_000719.7(CACNA1C):c.6407G>A (p.Ser2136Asn) rs1556337119
NM_000719.7(CACNA1C):c.65G>T (p.Ser22Ile)
NM_000719.7(CACNA1C):c.666C>T (p.Asn222=) rs527741368
NM_000719.7(CACNA1C):c.70C>T (p.Arg24Cys) rs773211348
NM_000719.7(CACNA1C):c.71G>A (p.Arg24His) rs200941579
NM_000719.7(CACNA1C):c.724C>T (p.Leu242=) rs200800133
NM_000719.7(CACNA1C):c.76G>A (p.Ala26Thr) rs369483452
NM_000719.7(CACNA1C):c.77C>T (p.Ala26Val) rs1555192348
NM_000719.7(CACNA1C):c.792C>A (p.Ala264=) rs750459136
NM_000719.7(CACNA1C):c.898A>G (p.Asn300Asp) rs200289321
NM_000719.7(CACNA1C):c.910A>G (p.Ile304Val)
NM_000719.7(CACNA1C):c.911T>C (p.Ile304Thr) rs201756421
NM_000719.7(CACNA1C):c.91A>G (p.Asn31Asp) rs531598856
NM_000719.7(CACNA1C):c.927A>G (p.Ala309=) rs369079645
NM_000719.7(CACNA1C):c.950C>T (p.Ala317Val) rs533892755
NM_000719.7(CACNA1C):c.953T>C (p.Leu318Pro) rs745856938
NM_000719.7(CACNA1C):c.959C>T (p.Thr320Met) rs377737331
NM_000719.7(CACNA1C):c.973C>A (p.Gln325Lys)
NM_000719.7(CACNA1C):c.985G>A (p.Gly329Ser) rs786205744
NM_000719.7(CACNA1C):c.989C>T (p.Thr330Met) rs377345545
NM_000719.7(CACNA1C):c.98A>G (p.Asn33Ser) rs535608443
NM_000719.7(CACNA1C):c.990G>A (p.Thr330=) rs371837699
NM_001129827.2(CACNA1C):c.3433A>G (p.Ile1145Val) rs727503834
NM_001129827.2(CACNA1C):c.3620G>A (p.Arg1207Gln) rs368861681

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