ClinVar Miner

List of variants reported as uncertain significance for EIG

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 431
Download table as spreadsheet
HGVS dbSNP
NC_000001.10:g.(?_1249188)_(1961741_?)del
NC_000001.10:g.(?_1950843)_(1961741_?)dup
NC_000016.9:g.(?_7560981)_(7680705_?)dup
NM_000726.4(CACNB4):c.1027C>G (p.Gln343Glu) rs1328517680
NM_000726.4(CACNB4):c.1061G>A (p.Ser354Asn) rs1559868500
NM_000726.4(CACNB4):c.1109G>C (p.Cys370Ser)
NM_000726.4(CACNB4):c.1198C>T (p.Arg400Cys) rs1060503174
NM_000726.4(CACNB4):c.1213A>C (p.Thr405Pro)
NM_000726.4(CACNB4):c.1310G>A (p.Arg437Gln)
NM_000726.4(CACNB4):c.1318C>G (p.His440Asp) rs1553740358
NM_000726.4(CACNB4):c.1355G>A (p.Arg452Lys) rs762394421
NM_000726.4(CACNB4):c.1418G>A (p.Arg473His)
NM_000726.4(CACNB4):c.1456C>A (p.Pro486Thr)
NM_000726.4(CACNB4):c.1467_1469AGA[1] (p.Glu490del) rs764343188
NM_000726.4(CACNB4):c.147+3A>G rs768976112
NM_000726.4(CACNB4):c.1509T>C (p.His503=) rs1060503173
NM_000726.4(CACNB4):c.1549C>T (p.Arg517Ter) rs370263335
NM_000726.4(CACNB4):c.1550G>A (p.Arg517Gln) rs760115429
NM_000726.4(CACNB4):c.1553A>G (p.His518Arg) rs377492950
NM_000726.4(CACNB4):c.315C>T (p.Gly105=) rs748422887
NM_000726.4(CACNB4):c.356C>T (p.Ser119Phe) rs1367982719
NM_000726.4(CACNB4):c.537_539TTC[2] (p.Ser183del) rs1057518634
NM_000726.4(CACNB4):c.640G>A (p.Asp214Asn)
NM_000726.4(CACNB4):c.699+6A>G
NM_000726.4(CACNB4):c.770C>T (p.Thr257Met) rs1553749683
NM_000726.4(CACNB4):c.809T>C (p.Val270Ala)
NM_000726.4(CACNB4):c.8C>T (p.Ser3Phe) rs542973906
NM_000726.4(CACNB4):c.91A>C (p.Ser31Arg) rs773391545
NM_000726.4(CACNB4):c.967A>G (p.Ile323Val) rs1559871505
NM_000726.4(CACNB4):c.988A>G (p.Ile330Val)
NM_000806.5(GABRA1):c.1004A>T (p.Asn335Ile)
NM_000806.5(GABRA1):c.1070T>C (p.Val357Ala)
NM_000806.5(GABRA1):c.1225C>T (p.Pro409Ser) rs139793542
NM_000806.5(GABRA1):c.1228A>G (p.Lys410Glu) rs1424659316
NM_000806.5(GABRA1):c.1332C>G (p.Asn444Lys) rs1554087843
NM_000806.5(GABRA1):c.1351G>A (p.Ala451Thr) rs1312439667
NM_000806.5(GABRA1):c.485T>G (p.Val162Gly) rs1554085822
NM_000806.5(GABRA1):c.637T>A (p.Ser213Thr)
NM_000806.5(GABRA1):c.640C>T (p.Arg214Cys) rs727503940
NM_000806.5(GABRA1):c.649C>A (p.Gln217Lys) rs1554086437
NM_000806.5(GABRA1):c.799C>A (p.Leu267Ile) rs796052492
NM_000806.5(GABRA1):c.85C>T (p.Pro29Ser) rs143815396
NM_000806.5(GABRA1):c.920T>C (p.Val307Ala)
NM_000806.5(GABRA1):c.932C>T (p.Thr311Ile)
NM_000806.5(GABRA1):c.94C>A (p.Gln32Lys) rs769743354
NM_000815.5(GABRD):c.1006G>A (p.Asp336Asn) rs1200416339
NM_000815.5(GABRD):c.1027G>C (p.Ala343Pro) rs749316684
NM_000815.5(GABRD):c.1065C>G (p.Asp355Glu) rs1031482653
NM_000815.5(GABRD):c.1108G>A (p.Val370Ile) rs1057519556
NM_000815.5(GABRD):c.1135C>T (p.Arg379Trp)
NM_000815.5(GABRD):c.1154G>A (p.Gly385Glu)
NM_000815.5(GABRD):c.1174A>G (p.Arg392Gly) rs1553123940
NM_000815.5(GABRD):c.1195G>A (p.Gly399Arg)
NM_000815.5(GABRD):c.1202C>G (p.Thr401Arg)
NM_000815.5(GABRD):c.1222C>T (p.Arg408Cys)
NM_000815.5(GABRD):c.1246C>T (p.Arg416Cys)
NM_000815.5(GABRD):c.1252C>T (p.Arg418Trp)
NM_000815.5(GABRD):c.1294C>T (p.Arg432Cys)
NM_000815.5(GABRD):c.1319C>T (p.Ala440Val)
NM_000815.5(GABRD):c.1324G>A (p.Val442Ile)
NM_000815.5(GABRD):c.14C>G (p.Ala5Gly) rs1207791272
NM_000815.5(GABRD):c.263C>T (p.Thr88Met) rs373508468
NM_000815.5(GABRD):c.392C>T (p.Ser131Leu)
NM_000815.5(GABRD):c.470+6C>T rs202225187
NM_000815.5(GABRD):c.471-8C>A rs748813137
NM_000815.5(GABRD):c.577G>A (p.Val193Ile)
NM_000815.5(GABRD):c.591G>A (p.Ser197=)
NM_000815.5(GABRD):c.596G>A (p.Ser199Asn) rs779793371
NM_000815.5(GABRD):c.638A>G (p.Gln213Arg) rs1557447332
NM_000815.5(GABRD):c.68+10C>T
NM_000815.5(GABRD):c.68+5G>C
NM_000815.5(GABRD):c.728T>C (p.Leu243Pro) rs1248355743
NM_000815.5(GABRD):c.730C>T (p.Arg244Trp)
NM_000815.5(GABRD):c.7G>T (p.Ala3Ser)
NM_000815.5(GABRD):c.969C>A (p.Ala323=) rs146381127
NM_001082575.2(RBFOX3):c.166G>A (p.Glu56Lys)
NM_001082575.2(RBFOX3):c.19C>T (p.Pro7Ser) rs376060745
NM_001082575.2(RBFOX3):c.21C>A (p.Pro7=)
NM_001082575.2(RBFOX3):c.232G>A (p.Glu78Lys)
NM_001082575.2(RBFOX3):c.257C>T (p.Pro86Leu) rs377660420
NM_001082575.2(RBFOX3):c.271G>A (p.Asp91Asn) rs375940495
NM_001082575.2(RBFOX3):c.273C>A (p.Asp91Glu)
NM_001082575.2(RBFOX3):c.347G>A (p.Arg116Gln) rs199891032
NM_001082575.2(RBFOX3):c.414G>C (p.Lys138Asn) rs1568134061
NM_001082575.2(RBFOX3):c.436G>C (p.Glu146Gln)
NM_001082575.2(RBFOX3):c.522G>A (p.Thr174=)
NM_001082575.2(RBFOX3):c.548C>T (p.Thr183Met) rs542684395
NM_001082575.2(RBFOX3):c.556C>A (p.Pro186Thr) rs372072435
NM_001082575.2(RBFOX3):c.568+6G>C
NM_001082575.2(RBFOX3):c.62A>C (p.Glu21Ala) rs1167103679
NM_001082575.2(RBFOX3):c.673G>A (p.Ala225Thr)
NM_001082575.2(RBFOX3):c.679C>A (p.Leu227Ile)
NM_001082575.2(RBFOX3):c.68C>T (p.Ala23Val) rs878854171
NM_001082575.2(RBFOX3):c.700G>A (p.Val234Met)
NM_001082575.2(RBFOX3):c.714T>G (p.Phe238Leu)
NM_001082575.2(RBFOX3):c.910G>A (p.Ala304Thr)
NM_001082575.2(RBFOX3):c.914C>T (p.Ala305Val) rs1294363374
NM_001082575.2(RBFOX3):c.936+6G>A
NM_001127644.2(GABRA1):c.1020A>C (p.Arg340Ser) rs1561587910
NM_001127644.2(GABRA1):c.1108C>A (p.Pro370Thr) rs1424508480
NM_001127644.2(GABRA1):c.498T>G (p.Cys166Trp) rs1437350481
NM_001127644.2(GABRA1):c.75C>T (p.Ser25=)
NM_001127644.2(GABRA1):c.787A>T (p.Met263Leu) rs1561584736
NM_018723.4(RBFOX1):c.1006G>C (p.Val336Leu) rs766496349
NM_018723.4(RBFOX1):c.1033G>A (p.Ala345Thr) rs150941982
NM_018723.4(RBFOX1):c.1033G>C (p.Ala345Pro) rs150941982
NM_018723.4(RBFOX1):c.1040C>T (p.Ala347Val) rs1555812114
NM_018723.4(RBFOX1):c.1042C>G (p.Pro348Ala)
NM_018723.4(RBFOX1):c.1089G>C (p.Leu363Phe)
NM_018723.4(RBFOX1):c.125C>G (p.Thr42Arg)
NM_018723.4(RBFOX1):c.130C>T (p.Pro44Ser) rs201490398
NM_018723.4(RBFOX1):c.151G>A (p.Glu51Lys)
NM_018723.4(RBFOX1):c.158C>G (p.Thr53Arg)
NM_018723.4(RBFOX1):c.163C>G (p.Gln55Glu) rs1567632409
NM_018723.4(RBFOX1):c.196T>C (p.Tyr66His)
NM_018723.4(RBFOX1):c.199C>T (p.Pro67Ser) rs143573994
NM_018723.4(RBFOX1):c.233C>G (p.Ala78Gly) rs761205127
NM_018723.4(RBFOX1):c.28-185063T>C rs147525462
NM_018723.4(RBFOX1):c.28-185090C>T
NM_018723.4(RBFOX1):c.28-185100A>G rs779418628
NM_018723.4(RBFOX1):c.28-185111A>T
NM_018723.4(RBFOX1):c.290C>T (p.Pro97Leu)
NM_018723.4(RBFOX1):c.293C>T (p.Thr98Met) rs373077021
NM_018723.4(RBFOX1):c.322G>C (p.Glu108Gln)
NM_018723.4(RBFOX1):c.46G>A (p.Ala16Thr) rs779321097
NM_018723.4(RBFOX1):c.52C>G (p.Pro18Ala) rs149974858
NM_018723.4(RBFOX1):c.802C>A (p.Arg268=)
NM_018723.4(RBFOX1):c.829C>T (p.Arg277Cys) rs1189994954
NM_018723.4(RBFOX1):c.871C>G (p.Pro291Ala)
NM_018723.4(RBFOX1):c.931-3T>C
NM_018723.4(RBFOX1):c.931-5191G>T
NM_018723.4(RBFOX1):c.931-5226T>A rs768777551
NM_018723.4(RBFOX1):c.94C>G (p.Pro32Ala) rs1567630819
NM_018723.4(RBFOX1):c.955G>T (p.Ala319Ser) rs199644500
NM_018723.4(RBFOX1):c.979G>A (p.Ala327Thr)
NM_021098.3(CACNA1H):c.1001G>A (p.Arg334His) rs964941206
NM_021098.3(CACNA1H):c.1119+6C>T
NM_021098.3(CACNA1H):c.1120-3C>T
NM_021098.3(CACNA1H):c.1137C>T (p.Gly379=)
NM_021098.3(CACNA1H):c.1144G>A (p.Asp382Asn)
NM_021098.3(CACNA1H):c.1172A>G (p.His391Arg)
NM_021098.3(CACNA1H):c.1282C>T (p.Arg428Trp)
NM_021098.3(CACNA1H):c.1286_1287AG[1] (p.Gln431fs)
NM_021098.3(CACNA1H):c.1316G>A (p.Arg439His)
NM_021098.3(CACNA1H):c.131C>T (p.Ser44Phe)
NM_021098.3(CACNA1H):c.1390G>A (p.Val464Met) rs61910721
NM_021098.3(CACNA1H):c.1405C>T (p.Arg469Cys) rs746748953
NM_021098.3(CACNA1H):c.140G>C (p.Gly47Ala) rs1555498163
NM_021098.3(CACNA1H):c.1436A>G (p.Tyr479Cys) rs199914911
NM_021098.3(CACNA1H):c.1453C>T (p.Arg485Cys) rs765665281
NM_021098.3(CACNA1H):c.1460G>A (p.Arg487His)
NM_021098.3(CACNA1H):c.149C>T (p.Pro50Leu)
NM_021098.3(CACNA1H):c.1517G>A (p.Arg506Gln) rs532223684
NM_021098.3(CACNA1H):c.1567_1569CAC[7] (p.His528dup)
NM_021098.3(CACNA1H):c.1609C>T (p.Arg537Cys)
NM_021098.3(CACNA1H):c.1639G>A (p.Asp547Asn)
NM_021098.3(CACNA1H):c.1667C>T (p.Pro556Leu)
NM_021098.3(CACNA1H):c.171G>T (p.Glu57Asp) rs539324457
NM_021098.3(CACNA1H):c.1744A>G (p.Ile582Val)
NM_021098.3(CACNA1H):c.1753C>T (p.Pro585Ser)
NM_021098.3(CACNA1H):c.1768C>T (p.Arg590Trp) rs199920661
NM_021098.3(CACNA1H):c.1769G>A (p.Arg590Gln) rs748210497
NM_021098.3(CACNA1H):c.1778_1789del (p.His593_Thr597delinsPro)
NM_021098.3(CACNA1H):c.1783G>A (p.Ala595Thr)
NM_021098.3(CACNA1H):c.1795G>A (p.Ala599Thr) rs776370351
NM_021098.3(CACNA1H):c.1850T>C (p.Leu617Pro) rs1433856447
NM_021098.3(CACNA1H):c.1870G>A (p.Gly624Ser) rs750987846
NM_021098.3(CACNA1H):c.1891G>A (p.Gly631Arg) rs369898856
NM_021098.3(CACNA1H):c.1895C>A (p.Pro632His)
NM_021098.3(CACNA1H):c.1937A>C (p.His646Pro) rs767196759
NM_021098.3(CACNA1H):c.1939G>A (p.Gly647Ser) rs147702970
NM_021098.3(CACNA1H):c.193G>A (p.Asp65Asn)
NM_021098.3(CACNA1H):c.1967C>T (p.Pro656Leu)
NM_021098.3(CACNA1H):c.1985A>G (p.His662Arg)
NM_021098.3(CACNA1H):c.1996G>A (p.Glu666Lys)
NM_021098.3(CACNA1H):c.2001T>A (p.His667Gln) rs1180154075
NM_021098.3(CACNA1H):c.2031G>A (p.Ser677=) rs3751663
NM_021098.3(CACNA1H):c.2039G>A (p.Ser680Asn) rs371925462
NM_021098.3(CACNA1H):c.2069C>T (p.Ala690Val) rs61018135
NM_021098.3(CACNA1H):c.2072G>A (p.Gly691Asp)
NM_021098.3(CACNA1H):c.2113C>T (p.Arg705Cys)
NM_021098.3(CACNA1H):c.2114G>A (p.Arg705His)
NM_021098.3(CACNA1H):c.2125G>A (p.Asp709Asn)
NM_021098.3(CACNA1H):c.2173C>T (p.Arg725Cys) rs764438301
NM_021098.3(CACNA1H):c.217C>T (p.Pro73Ser)
NM_021098.3(CACNA1H):c.2183A>G (p.Tyr728Cys)
NM_021098.3(CACNA1H):c.2188T>C (p.Phe730Leu) rs1346520324
NM_021098.3(CACNA1H):c.2192C>T (p.Thr731Met)
NM_021098.3(CACNA1H):c.2200G>A (p.Val734Ile) rs1567519932
NM_021098.3(CACNA1H):c.2215C>T (p.Arg739Cys) rs371167728
NM_021098.3(CACNA1H):c.2216G>T (p.Arg739Leu)
NM_021098.3(CACNA1H):c.2223C>G (p.Asp741Glu)
NM_021098.3(CACNA1H):c.2228C>T (p.Thr743Met)
NM_021098.3(CACNA1H):c.2239C>T (p.Arg747Cys) rs369566757
NM_021098.3(CACNA1H):c.2240G>A (p.Arg747His)
NM_021098.3(CACNA1H):c.2254_2259CCAGGC[4] (p.752_753PG[4]) rs756747669
NM_021098.3(CACNA1H):c.2255C>T (p.Pro752Leu) rs761877111
NM_021098.3(CACNA1H):c.2264G>A (p.Gly755Asp) rs142306293
NM_021098.3(CACNA1H):c.2272A>G (p.Ser758Gly)
NM_021098.3(CACNA1H):c.2282G>A (p.Arg761Gln)
NM_021098.3(CACNA1H):c.2284C>T (p.Arg762Trp)
NM_021098.3(CACNA1H):c.2321G>T (p.Trp774Leu)
NM_021098.3(CACNA1H):c.2329C>T (p.Arg777Cys)
NM_021098.3(CACNA1H):c.2342C>T (p.Thr781Ile)
NM_021098.3(CACNA1H):c.2346C>A (p.Phe782Leu)
NM_021098.3(CACNA1H):c.2387G>A (p.Ser796Asn) rs1567521021
NM_021098.3(CACNA1H):c.2389C>T (p.Arg797Cys) rs183042575
NM_021098.3(CACNA1H):c.2452-6C>G
NM_021098.3(CACNA1H):c.2461C>G (p.Leu821Val)
NM_021098.3(CACNA1H):c.2465C>T (p.Thr822Ile)
NM_021098.3(CACNA1H):c.2534T>G (p.Leu845Arg)
NM_021098.3(CACNA1H):c.2536G>A (p.Ala846Thr)
NM_021098.3(CACNA1H):c.2540G>C (p.Cys847Ser)
NM_021098.3(CACNA1H):c.2540G>T (p.Cys847Phe) rs202019417
NM_021098.3(CACNA1H):c.2542G>A (p.Gly848Ser)
NM_021098.3(CACNA1H):c.2561G>A (p.Arg854Gln)
NM_021098.3(CACNA1H):c.2603+3G>A
NM_021098.3(CACNA1H):c.2627C>T (p.Ala876Val)
NM_021098.3(CACNA1H):c.2704C>T (p.Arg902Trp) rs779011503
NM_021098.3(CACNA1H):c.2705G>A (p.Arg902Gln) rs748252386
NM_021098.3(CACNA1H):c.2708G>A (p.Arg903His) rs1057520721
NM_021098.3(CACNA1H):c.273C>G (p.Ser91Arg)
NM_021098.3(CACNA1H):c.2842G>A (p.Gly948Arg) rs763407611
NM_021098.3(CACNA1H):c.28G>A (p.Glu10Lys) rs1266233731
NM_021098.3(CACNA1H):c.300-3C>T
NM_021098.3(CACNA1H):c.300-8G>T rs3751662
NM_021098.3(CACNA1H):c.3059C>A (p.Ala1020Glu) rs771994752
NM_021098.3(CACNA1H):c.3063+9del rs757759305
NM_021098.3(CACNA1H):c.3066C>T (p.Gly1022=)
NM_021098.3(CACNA1H):c.3067G>A (p.Asp1023Asn)
NM_021098.3(CACNA1H):c.3082G>A (p.Asp1028Asn) rs745354512
NM_021098.3(CACNA1H):c.3101C>T (p.Thr1034Met) rs371500703
NM_021098.3(CACNA1H):c.3110A>G (p.His1037Arg)
NM_021098.3(CACNA1H):c.3139G>A (p.Glu1047Lys) rs1555514736
NM_021098.3(CACNA1H):c.313G>A (p.Val105Met) rs1437402680
NM_021098.3(CACNA1H):c.3143_3145del (p.Leu1048del) rs1555514742
NM_021098.3(CACNA1H):c.314T>G (p.Val105Gly)
NM_021098.3(CACNA1H):c.3154+3G>A
NM_021098.3(CACNA1H):c.3173T>C (p.Leu1058Pro) rs1369723667
NM_021098.3(CACNA1H):c.3218C>T (p.Ser1073Phe)
NM_021098.3(CACNA1H):c.3256C>T (p.Pro1086Ser) rs1049677203
NM_021098.3(CACNA1H):c.3260C>T (p.Thr1087Ile)
NM_021098.3(CACNA1H):c.3263C>T (p.Pro1088Leu)
NM_021098.3(CACNA1H):c.3280C>A (p.Leu1094Met) rs1567531841
NM_021098.3(CACNA1H):c.3331G>C (p.Gly1111Arg)
NM_021098.3(CACNA1H):c.3363+6G>A
NM_021098.3(CACNA1H):c.3422_3442del (p.Arg1141_Ser1147del) rs746597383
NM_021098.3(CACNA1H):c.3422_3442dup (p.Arg1141_Ser1147dup)
NM_021098.3(CACNA1H):c.3469C>T (p.Arg1157Cys) rs1057523326
NM_021098.3(CACNA1H):c.3508G>A (p.Glu1170Lys)
NM_021098.3(CACNA1H):c.3519C>T (p.Gly1173=)
NM_021098.3(CACNA1H):c.3520A>G (p.Ser1174Gly) rs1379085668
NM_021098.3(CACNA1H):c.3559G>A (p.Gly1187Arg) rs772258959
NM_021098.3(CACNA1H):c.355A>G (p.Met119Val)
NM_021098.3(CACNA1H):c.3566G>A (p.Arg1189His)
NM_021098.3(CACNA1H):c.356T>C (p.Met119Thr)
NM_021098.3(CACNA1H):c.3581G>A (p.Arg1194Gln) rs759668583
NM_021098.3(CACNA1H):c.3589G>A (p.Glu1197Lys) rs751423106
NM_021098.3(CACNA1H):c.3599A>C (p.Asp1200Ala) rs1555515661
NM_021098.3(CACNA1H):c.3601C>A (p.Pro1201Thr) rs1185269498
NM_021098.3(CACNA1H):c.3643C>T (p.Arg1215Cys) rs756154211
NM_021098.3(CACNA1H):c.3644G>A (p.Arg1215His) rs370838298
NM_021098.3(CACNA1H):c.3646G>A (p.Asp1216Asn) rs754581272
NM_021098.3(CACNA1H):c.3649C>T (p.Arg1217Cys) rs778684497
NM_021098.3(CACNA1H):c.3650G>A (p.Arg1217His) rs374847612
NM_021098.3(CACNA1H):c.3652G>A (p.Asp1218Asn) rs771215852
NM_021098.3(CACNA1H):c.3658C>G (p.Gln1220Glu)
NM_021098.3(CACNA1H):c.3702C>A (p.Ser1234Arg) rs1176658784
NM_021098.3(CACNA1H):c.3727_3729GAC[2] (p.Asp1245del)
NM_021098.3(CACNA1H):c.3737C>G (p.Ser1246Trp) rs571145188
NM_021098.3(CACNA1H):c.3737C>T (p.Ser1246Leu)
NM_021098.3(CACNA1H):c.3742G>A (p.Asp1248Asn) rs552269381
NM_021098.3(CACNA1H):c.3744+1G>A rs770718464
NM_021098.3(CACNA1H):c.3757C>T (p.Arg1253Cys)
NM_021098.3(CACNA1H):c.376G>A (p.Val126Ile)
NM_021098.3(CACNA1H):c.3786G>T (p.Lys1262Asn)
NM_021098.3(CACNA1H):c.3799C>T (p.Arg1267Trp) rs751642419
NM_021098.3(CACNA1H):c.3806G>A (p.Arg1269His)
NM_021098.3(CACNA1H):c.3844C>A (p.Arg1282=)
NM_021098.3(CACNA1H):c.3849C>G (p.Phe1283Leu)
NM_021098.3(CACNA1H):c.3853G>A (p.Val1285Ile) rs761199543
NM_021098.3(CACNA1H):c.3857C>G (p.Ser1286Cys)
NM_021098.3(CACNA1H):c.3925G>A (p.Val1309Ile)
NM_021098.3(CACNA1H):c.3931A>G (p.Ile1311Val) rs754671059
NM_021098.3(CACNA1H):c.3965G>A (p.Ser1322Asn)
NM_021098.3(CACNA1H):c.3974G>A (p.Arg1325Gln) rs949170696
NM_021098.3(CACNA1H):c.4022C>T (p.Ala1341Val) rs371030255
NM_021098.3(CACNA1H):c.4033G>C (p.Val1345Leu)
NM_021098.3(CACNA1H):c.4063G>A (p.Gly1355Ser)
NM_021098.3(CACNA1H):c.4066G>A (p.Glu1356Lys)
NM_021098.3(CACNA1H):c.4070A>T (p.His1357Leu) rs775971172
NM_021098.3(CACNA1H):c.4072G>A (p.Ala1358Thr)
NM_021098.3(CACNA1H):c.4120G>A (p.Val1374Met) rs201855332
NM_021098.3(CACNA1H):c.4147A>G (p.Met1383Val)
NM_021098.3(CACNA1H):c.421G>A (p.Ala141Thr)
NM_021098.3(CACNA1H):c.4234C>T (p.Arg1412Trp)
NM_021098.3(CACNA1H):c.4244G>A (p.Gly1415Asp)
NM_021098.3(CACNA1H):c.4316C>T (p.Ala1439Val) rs1379672193
NM_021098.3(CACNA1H):c.4318_4319delinsGC (p.Phe1440Ala) rs1567541260
NM_021098.3(CACNA1H):c.4430A>G (p.His1477Arg) rs1567542033
NM_021098.3(CACNA1H):c.4435C>A (p.Arg1479Ser) rs181140276
NM_021098.3(CACNA1H):c.443C>T (p.Ala148Val)
NM_021098.3(CACNA1H):c.4448G>A (p.Arg1483His) rs774455553
NM_021098.3(CACNA1H):c.4534G>A (p.Asp1512Asn) rs200709671
NM_021098.3(CACNA1H):c.4558G>A (p.Asp1520Asn) rs555853603
NM_021098.3(CACNA1H):c.4624G>A (p.Val1542Ile) rs745495784
NM_021098.3(CACNA1H):c.463A>T (p.Met155Leu) rs1045818263
NM_021098.3(CACNA1H):c.4646T>C (p.Met1549Thr) rs1195869438
NM_021098.3(CACNA1H):c.4651G>A (p.Val1551Met) rs369045626
NM_021098.3(CACNA1H):c.4657G>A (p.Val1553Ile)
NM_021098.3(CACNA1H):c.4709C>T (p.Ala1570Val)
NM_021098.3(CACNA1H):c.4720G>C (p.Glu1574Gln)
NM_021098.3(CACNA1H):c.4739G>A (p.Arg1580His) rs200627008
NM_021098.3(CACNA1H):c.4759+1G>A rs1406256818
NM_021098.3(CACNA1H):c.4759+4A>G rs1567543703
NM_021098.3(CACNA1H):c.4762A>G (p.Thr1588Ala) rs1555517834
NM_021098.3(CACNA1H):c.4763C>G (p.Thr1588Ser)
NM_021098.3(CACNA1H):c.4780_4781delinsTT (p.Ala1594Phe) rs1555518356
NM_021098.3(CACNA1H):c.4787G>A (p.Arg1596His) rs1458781875
NM_021098.3(CACNA1H):c.4814C>T (p.Pro1605Leu)
NM_021098.3(CACNA1H):c.4822C>T (p.Arg1608Cys) rs531597200
NM_021098.3(CACNA1H):c.4835C>T (p.Ser1612Leu) rs370292995
NM_021098.3(CACNA1H):c.4853A>C (p.Tyr1618Ser) rs769175169
NM_021098.3(CACNA1H):c.4886T>C (p.Val1629Ala) rs1555518486
NM_021098.3(CACNA1H):c.4906A>G (p.Met1636Val) rs371096587
NM_021098.3(CACNA1H):c.4922A>G (p.Gln1641Arg)
NM_021098.3(CACNA1H):c.4929+5G>A rs1054400971
NM_021098.3(CACNA1H):c.4931C>T (p.Ser1644Leu) rs745902196
NM_021098.3(CACNA1H):c.493T>C (p.Cys165Arg)
NM_021098.3(CACNA1H):c.4972A>G (p.Ile1658Val)
NM_021098.3(CACNA1H):c.5020C>T (p.Arg1674Cys) rs771932368
NM_021098.3(CACNA1H):c.5024G>A (p.Arg1675Gln)
NM_021098.3(CACNA1H):c.5081T>C (p.Met1694Thr) rs375015931
NM_021098.3(CACNA1H):c.5132_5134CCA[1] (p.Thr1712del)
NM_021098.3(CACNA1H):c.5173+5G>A rs1567550121
NM_021098.3(CACNA1H):c.519G>C (p.Arg173Ser) rs1567495146
NM_021098.3(CACNA1H):c.5207G>A (p.Arg1736His) rs3889063
NM_021098.3(CACNA1H):c.5274_5276del (p.Leu1759del) rs1567552660
NM_021098.3(CACNA1H):c.5342C>G (p.Pro1781Arg)
NM_021098.3(CACNA1H):c.5406C>A (p.Phe1802Leu)
NM_021098.3(CACNA1H):c.5436G>T (p.Gly1812=)
NM_021098.3(CACNA1H):c.5445+4C>G
NM_021098.3(CACNA1H):c.5446-10C>G rs1184041228
NM_021098.3(CACNA1H):c.5446-6C>A rs923710949
NM_021098.3(CACNA1H):c.5458G>A (p.Glu1820Lys)
NM_021098.3(CACNA1H):c.5467C>T (p.Arg1823Cys)
NM_021098.3(CACNA1H):c.5512G>A (p.Val1838Ile)
NM_021098.3(CACNA1H):c.5519T>G (p.Phe1840Cys)
NM_021098.3(CACNA1H):c.5521G>A (p.Val1841Met)
NM_021098.3(CACNA1H):c.552G>A (p.Met184Ile)
NM_021098.3(CACNA1H):c.5621C>T (p.Ala1874Val) rs374807892
NM_021098.3(CACNA1H):c.5635G>A (p.Glu1879Lys) rs377103385
NM_021098.3(CACNA1H):c.5677C>T (p.Arg1893Trp)
NM_021098.3(CACNA1H):c.5678G>A (p.Arg1893Gln)
NM_021098.3(CACNA1H):c.5696C>T (p.Pro1899Leu) rs750475467
NM_021098.3(CACNA1H):c.5717C>T (p.Pro1906Leu) rs749054531
NM_021098.3(CACNA1H):c.5729_5730inv (p.Asp1910Gly)
NM_021098.3(CACNA1H):c.5752A>G (p.Lys1918Glu) rs1555520320
NM_021098.3(CACNA1H):c.5765C>T (p.Ser1922Phe) rs919557968
NM_021098.3(CACNA1H):c.5777C>T (p.Ser1926Leu)
NM_021098.3(CACNA1H):c.5798T>C (p.Met1933Thr)
NM_021098.3(CACNA1H):c.5816C>T (p.Pro1939Leu)
NM_021098.3(CACNA1H):c.5818G>C (p.Ala1940Pro)
NM_021098.3(CACNA1H):c.5825C>T (p.Ala1942Val) rs72552053
NM_021098.3(CACNA1H):c.5852T>A (p.Val1951Glu)
NM_021098.3(CACNA1H):c.5902G>C (p.Val1968Leu)
NM_021098.3(CACNA1H):c.5945C>T (p.Pro1982Leu) rs1483742539
NM_021098.3(CACNA1H):c.5970G>T (p.Arg1990Ser) rs1567556646
NM_021098.3(CACNA1H):c.5973C>A (p.Ser1991Arg)
NM_021098.3(CACNA1H):c.5974G>A (p.Gly1992Ser) rs558813483
NM_021098.3(CACNA1H):c.5983C>T (p.Leu1995Phe)
NM_021098.3(CACNA1H):c.5996C>T (p.Ser1999Phe)
NM_021098.3(CACNA1H):c.6014G>A (p.Arg2005His) rs368553931
NM_021098.3(CACNA1H):c.6023G>T (p.Ser2008Ile)
NM_021098.3(CACNA1H):c.6031C>T (p.Arg2011Trp) rs753241781
NM_021098.3(CACNA1H):c.6032G>A (p.Arg2011Gln) rs554063452
NM_021098.3(CACNA1H):c.6049-4A>T
NM_021098.3(CACNA1H):c.6115G>A (p.Glu2039Lys)
NM_021098.3(CACNA1H):c.6197G>C (p.Ser2066Thr) rs369917102
NM_021098.3(CACNA1H):c.6199G>A (p.Val2067Ile) rs370883583
NM_021098.3(CACNA1H):c.6208C>T (p.Arg2070Cys) rs758461760
NM_021098.3(CACNA1H):c.6235G>A (p.Val2079Ile)
NM_021098.3(CACNA1H):c.6244C>A (p.Arg2082=)
NM_021098.3(CACNA1H):c.6244C>T (p.Arg2082Trp)
NM_021098.3(CACNA1H):c.6253G>C (p.Ala2085Pro) rs1555520840
NM_021098.3(CACNA1H):c.6260G>T (p.Gly2087Val) rs750666820
NM_021098.3(CACNA1H):c.6262G>A (p.Gly2088Arg) rs779925007
NM_021098.3(CACNA1H):c.6281C>G (p.Ser2094Trp)
NM_021098.3(CACNA1H):c.6295G>A (p.Glu2099Lys) rs774769004
NM_021098.3(CACNA1H):c.6296_6298AGG[1] (p.Glu2100del)
NM_021098.3(CACNA1H):c.6311_6325del (p.Ile2104_Cys2109delinsSer) rs774660673
NM_021098.3(CACNA1H):c.6328C>T (p.Pro2110Ser)
NM_021098.3(CACNA1H):c.6341C>T (p.Thr2114Ile) rs774915687
NM_021098.3(CACNA1H):c.6358C>A (p.Pro2120Thr) rs1225788473
NM_021098.3(CACNA1H):c.6383G>A (p.Gly2128Asp) rs772416042
NM_021098.3(CACNA1H):c.6459G>C (p.Gln2153His)
NM_021098.3(CACNA1H):c.6470C>T (p.Ser2157Leu)
NM_021098.3(CACNA1H):c.6485G>T (p.Ser2162Ile)
NM_021098.3(CACNA1H):c.6488G>C (p.Gly2163Ala) rs1348390859
NM_021098.3(CACNA1H):c.6511T>C (p.Trp2171Arg) rs746446797
NM_021098.3(CACNA1H):c.6551_6553AGA[2] (p.Lys2186del) rs766893201
NM_021098.3(CACNA1H):c.6565C>T (p.Pro2189Ser) rs538538654
NM_021098.3(CACNA1H):c.6593C>T (p.Ala2198Val) rs776473889
NM_021098.3(CACNA1H):c.6605G>A (p.Gly2202Asp) rs762635374
NM_021098.3(CACNA1H):c.6617C>T (p.Pro2206Leu)
NM_021098.3(CACNA1H):c.6623C>T (p.Ala2208Val)
NM_021098.3(CACNA1H):c.6625G>C (p.Ala2209Pro) rs59103647
NM_021098.3(CACNA1H):c.6652C>T (p.Arg2218Cys)
NM_021098.3(CACNA1H):c.6661C>G (p.Pro2221Ala)
NM_021098.3(CACNA1H):c.6677C>T (p.Thr2226Met)
NM_021098.3(CACNA1H):c.6718G>A (p.Ala2240Thr) rs774116060
NM_021098.3(CACNA1H):c.6724G>A (p.Gly2242Arg) rs776025785
NM_021098.3(CACNA1H):c.6748C>A (p.Arg2250Ser) rs375586314
NM_021098.3(CACNA1H):c.6748C>T (p.Arg2250Cys)
NM_021098.3(CACNA1H):c.6749G>A (p.Arg2250His) rs554435610
NM_021098.3(CACNA1H):c.6769C>T (p.Arg2257Trp) rs770202267
NM_021098.3(CACNA1H):c.6787G>A (p.Val2263Ile)
NM_021098.3(CACNA1H):c.6838C>T (p.Pro2280Ser)
NM_021098.3(CACNA1H):c.6905C>T (p.Pro2302Leu)
NM_021098.3(CACNA1H):c.6955_6957del (p.Glu2319del) rs755117171
NM_021098.3(CACNA1H):c.7000G>C (p.Glu2334Gln) rs1203994251
NM_021098.3(CACNA1H):c.7049A>T (p.Asp2350Val)
NM_021098.3(CACNA1H):c.733G>A (p.Gly245Ser) rs774687054
NM_021098.3(CACNA1H):c.790A>G (p.Ser264Gly) rs745571869
NM_021098.3(CACNA1H):c.818C>T (p.Thr273Ile)
NM_021098.3(CACNA1H):c.826C>T (p.Arg276Trp)
NM_021098.3(CACNA1H):c.851G>A (p.Gly284Asp)
NM_021098.3(CACNA1H):c.853G>A (p.Glu285Lys)
NM_021098.3(CACNA1H):c.912C>G (p.His304Gln) rs377665479
NM_021098.3(CACNA1H):c.926G>A (p.Arg309His) rs201651793
NM_021098.3(CACNA1H):c.927C>T (p.Arg309=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.