ClinVar Miner

List of variants in gene CACNA1H reported as likely benign for electroclinical syndrome

Included ClinVar conditions (101):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 247
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HGVS dbSNP gnomAD frequency
NM_021098.3(CACNA1H):c.5897C>T (p.Ala1966Val) rs72552054 0.01514
NM_021098.3(CACNA1H):c.6939C>T (p.Pro2313=) rs59385968 0.00957
NM_021098.3(CACNA1H):c.1120-8C>T rs59091981 0.00928
NM_021098.3(CACNA1H):c.2631C>T (p.Asp877=) rs59636120 0.00667
NM_021098.3(CACNA1H):c.6273C>T (p.Ala2091=) rs59297244 0.00610
NM_021098.3(CACNA1H):c.5493C>T (p.Tyr1831=) rs60218977 0.00542
NM_021098.3(CACNA1H):c.4983C>A (p.Val1661=) rs61382101 0.00511
NM_021098.3(CACNA1H):c.4817C>T (p.Thr1606Met) rs59286323 0.00493
NM_021098.3(CACNA1H):c.1236C>T (p.Asn412=) rs59696308 0.00434
NM_021098.3(CACNA1H):c.5173+10C>T rs72554026 0.00407
NM_021098.3(CACNA1H):c.270C>G (p.Arg90=) rs577235589 0.00390
NM_021098.3(CACNA1H):c.4224-6C>T rs72552039 0.00386
NM_021098.3(CACNA1H):c.4314C>T (p.Cys1438=) rs60275734 0.00378
NM_021098.3(CACNA1H):c.5445+4C>T rs147142971 0.00295
NM_021098.3(CACNA1H):c.3846-10G>A rs377030217 0.00260
NM_021098.3(CACNA1H):c.2603+20C>A rs57600685 0.00226
NM_021098.3(CACNA1H):c.3622G>A (p.Ala1208Thr) rs58394372 0.00193
NM_021098.3(CACNA1H):c.4778-14C>T rs374784679 0.00185
NM_021098.3(CACNA1H):c.1212+18T>C rs11863387 0.00171
NM_021098.3(CACNA1H):c.5253C>T (p.Asn1751=) rs57181695 0.00171
NM_021098.3(CACNA1H):c.6195C>T (p.Ala2065=) rs375589233 0.00171
NM_021098.3(CACNA1H):c.2790-20G>A rs373286579 0.00153
NM_021098.3(CACNA1H):c.1213-18C>T rs57432507 0.00130
NM_021098.3(CACNA1H):c.6322G>A (p.Ala2108Thr) rs56930660 0.00126
NM_021098.3(CACNA1H):c.4248C>G (p.Leu1416=) rs58110066 0.00122
NM_021098.3(CACNA1H):c.6543G>A (p.Ala2181=) rs117964326 0.00118
NM_021098.3(CACNA1H):c.1059C>T (p.Asn353=) rs59310656 0.00117
NM_021098.3(CACNA1H):c.643+11G>A rs200949826 0.00114
NM_021098.3(CACNA1H):c.5494C>T (p.Leu1832=) rs61732194 0.00095
NM_021098.3(CACNA1H):c.2511C>T (p.Ala837=) rs200144667 0.00094
NM_021098.3(CACNA1H):c.2451+20C>T rs144765479 0.00083
NM_021098.3(CACNA1H):c.3744+17G>A rs187187164 0.00077
NM_021098.3(CACNA1H):c.3261C>A (p.Thr1087=) rs57606792 0.00073
NM_021098.3(CACNA1H):c.804-8A>G rs367708036 0.00073
NM_021098.3(CACNA1H):c.3614G>A (p.Arg1205Gln) rs58594334 0.00072
NM_021098.3(CACNA1H):c.4584C>T (p.Asn1528=) rs200542719 0.00072
NM_021098.3(CACNA1H):c.2310C>T (p.Gly770=) rs371026871 0.00068
NM_021098.3(CACNA1H):c.3792G>T (p.Gln1264His) rs200228767 0.00068
NM_021098.3(CACNA1H):c.1425C>T (p.Ser475=) rs60537026 0.00067
NM_021098.3(CACNA1H):c.6048+18C>A rs72552057 0.00066
NM_021098.3(CACNA1H):c.918C>T (p.Pro306=) rs57468015 0.00065
NM_021098.3(CACNA1H):c.3645C>T (p.Arg1215=) rs371762447 0.00063
NM_021098.3(CACNA1H):c.5808C>T (p.Pro1936=) rs374421144 0.00063
NM_021098.3(CACNA1H):c.299+20G>T rs1291334132 0.00058
NM_021098.3(CACNA1H):c.3845+8G>A rs200291203 0.00054
NM_021098.3(CACNA1H):c.1371C>T (p.Tyr457=) rs368758031 0.00053
NM_021098.3(CACNA1H):c.3969+20C>T rs201422742 0.00048
NM_021098.3(CACNA1H):c.5445+6C>T rs372544546 0.00048
NM_021098.3(CACNA1H):c.6198C>T (p.Ser2066=) rs375020212 0.00048
NM_021098.3(CACNA1H):c.6222C>T (p.Phe2074=) rs373620549 0.00045
NM_021098.3(CACNA1H):c.4476+15C>T rs201891003 0.00043
NM_021098.3(CACNA1H):c.3845+11C>T rs58080058 0.00042
NM_021098.3(CACNA1H):c.5679G>T (p.Arg1893=) rs58304047 0.00041
NM_021098.3(CACNA1H):c.5958G>A (p.Ser1986=) rs370805573 0.00041
NM_021098.3(CACNA1H):c.888C>T (p.Asp296=) rs79829712 0.00041
NM_021098.3(CACNA1H):c.1213-7G>A rs372752869 0.00040
NM_021098.3(CACNA1H):c.2146G>A (p.Gly716Ser) rs187225648 0.00038
NM_021098.3(CACNA1H):c.6579G>A (p.Ser2193=) rs200017975 0.00038
NM_021098.3(CACNA1H):c.2151G>A (p.Ser717=) rs200423899 0.00036
NM_021098.3(CACNA1H):c.3925G>A (p.Val1309Ile) rs201352768 0.00034
NM_021098.3(CACNA1H):c.3846-16G>A rs764918796 0.00033
NM_021098.3(CACNA1H):c.2269G>C (p.Gly757Arg) rs200813987 0.00031
NM_021098.3(CACNA1H):c.3745-17G>A rs201602467 0.00031
NM_021098.3(CACNA1H):c.6531C>T (p.Pro2177=) rs368284672 0.00031
NM_021098.3(CACNA1H):c.4566+18G>A rs376034289 0.00030
NM_021098.3(CACNA1H):c.2003-5C>T rs369119012 0.00027
NM_021098.3(CACNA1H):c.4714C>T (p.Arg1572Trp) rs199693105 0.00027
NM_021098.3(CACNA1H):c.5988C>T (p.His1996=) rs534974071 0.00027
NM_021098.3(CACNA1H):c.1389C>T (p.Tyr463=) rs375590164 0.00026
NM_021098.3(CACNA1H):c.3745-18C>T rs570915422 0.00026
NM_021098.3(CACNA1H):c.1869C>T (p.Ser623=) rs372975893 0.00025
NM_021098.3(CACNA1H):c.1754C>T (p.Pro585Leu) rs372367313 0.00024
NM_021098.3(CACNA1H):c.5562G>C (p.Val1854=) rs368251427 0.00024
NM_021098.3(CACNA1H):c.43C>T (p.Leu15=) rs1052743921 0.00023
NM_021098.3(CACNA1H):c.1495G>A (p.Gly499Ser) rs560915333 0.00022
NM_021098.3(CACNA1H):c.624C>T (p.Arg208=) rs56816479 0.00021
NM_021098.3(CACNA1H):c.2452-7C>T rs28365121 0.00020
NM_021098.3(CACNA1H):c.4759+8G>A rs199997129 0.00019
NM_021098.3(CACNA1H):c.2604-5C>T rs191783113 0.00017
NM_021098.3(CACNA1H):c.3561G>A (p.Gly1187=) rs543668675 0.00017
NM_021098.3(CACNA1H):c.555G>A (p.Glu185=) rs61700478 0.00017
NM_021098.3(CACNA1H):c.1005C>T (p.Asn335=) rs59027754 0.00016
NM_021098.3(CACNA1H):c.2790-5C>T rs369327243 0.00016
NM_021098.3(CACNA1H):c.5174-5C>T rs199536335 0.00016
NM_021098.3(CACNA1H):c.5340C>T (p.Asn1780=) rs375620368 0.00016
NM_021098.3(CACNA1H):c.2580C>T (p.Phe860=) rs374317639 0.00015
NM_021098.3(CACNA1H):c.3012T>C (p.Tyr1004=) rs537043174 0.00015
NM_021098.3(CACNA1H):c.6545G>A (p.Arg2182His) rs200724225 0.00015
NM_021098.3(CACNA1H):c.915C>T (p.Ile305=) rs370836939 0.00015
NM_021098.3(CACNA1H):c.1068C>T (p.Asn356=) rs369894677 0.00014
NM_021098.3(CACNA1H):c.2583C>T (p.Asp861=) rs368201539 0.00014
NM_021098.3(CACNA1H):c.3969+12A>G rs200138472 0.00014
NM_021098.3(CACNA1H):c.6849C>T (p.Asp2283=) rs369051137 0.00014
NM_021098.3(CACNA1H):c.3363+12C>G rs749123905 0.00013
NM_021098.3(CACNA1H):c.5832C>T (p.His1944=) rs372529098 0.00013
NM_021098.3(CACNA1H):c.1269G>A (p.Ser423=) rs368956894 0.00012
NM_021098.3(CACNA1H):c.1623C>T (p.Pro541=) rs773501953 0.00012
NM_021098.3(CACNA1H):c.3462C>T (p.Leu1154=) rs940068732 0.00012
NM_021098.3(CACNA1H):c.1029C>T (p.Tyr343=) rs375894182 0.00011
NM_021098.3(CACNA1H):c.1167C>T (p.Asp389=) rs41292281 0.00011
NM_021098.3(CACNA1H):c.1794C>T (p.Ala598=) rs369322856 0.00011
NM_021098.3(CACNA1H):c.1944G>A (p.Pro648=) rs766161313 0.00011
NM_021098.3(CACNA1H):c.2199C>T (p.Asp733=) rs536342720 0.00011
NM_021098.3(CACNA1H):c.3744+8C>T rs373354560 0.00011
NM_021098.3(CACNA1H):c.706C>T (p.Leu236=) rs748968251 0.00011
NM_021098.3(CACNA1H):c.1890C>T (p.Pro630=) rs755382298 0.00010
NM_021098.3(CACNA1H):c.2907+9C>T rs200631961 0.00010
NM_021098.3(CACNA1H):c.4287C>A (p.Pro1429=) rs371310397 0.00010
NM_021098.3(CACNA1H):c.4836G>A (p.Ser1612=) rs58033848 0.00010
NM_021098.3(CACNA1H):c.1911C>T (p.Ala637=) rs539497900 0.00009
NM_021098.3(CACNA1H):c.2103G>A (p.Pro701=) rs59906488 0.00009
NM_021098.3(CACNA1H):c.2742C>T (p.Asn914=) rs375091126 0.00009
NM_021098.3(CACNA1H):c.3543C>T (p.Asp1181=) rs958144782 0.00009
NM_021098.3(CACNA1H):c.3744+9G>A rs377367672 0.00009
NM_021098.3(CACNA1H):c.4371C>T (p.Tyr1457=) rs72552043 0.00009
NM_021098.3(CACNA1H):c.4659C>T (p.Val1553=) rs372465474 0.00009
NM_021098.3(CACNA1H):c.4812G>A (p.Ser1604=) rs377611664 0.00009
NM_021098.3(CACNA1H):c.663T>A (p.Thr221=) rs368713417 0.00009
NM_021098.3(CACNA1H):c.5760C>T (p.Ser1920=) rs144424401 0.00008
NM_021098.3(CACNA1H):c.6618C>T (p.Pro2206=) rs755043976 0.00008
NM_021098.3(CACNA1H):c.801C>T (p.Val267=) rs372726042 0.00008
NM_021098.3(CACNA1H):c.1788C>T (p.Ala596=) rs147877708 0.00007
NM_021098.3(CACNA1H):c.1828A>G (p.Thr610Ala) rs201449513 0.00007
NM_021098.3(CACNA1H):c.273C>T (p.Ser91=) rs1043511168 0.00007
NM_021098.3(CACNA1H):c.2907+8C>G rs374392186 0.00007
NM_021098.3(CACNA1H):c.3114C>T (p.Phe1038=) rs374946880 0.00007
NM_021098.3(CACNA1H):c.5313C>T (p.Phe1771=) rs372640825 0.00007
NM_021098.3(CACNA1H):c.6781C>T (p.Leu2261=) rs774253114 0.00007
NM_021098.3(CACNA1H):c.2889C>T (p.Ala963=) rs56990251 0.00006
NM_021098.3(CACNA1H):c.3155-5C>T rs143582273 0.00006
NM_021098.3(CACNA1H):c.3573C>T (p.Thr1191=) rs555890424 0.00006
NM_021098.3(CACNA1H):c.3684C>T (p.Phe1228=) rs369508525 0.00006
NM_021098.3(CACNA1H):c.4350+16G>A rs372361783 0.00006
NM_021098.3(CACNA1H):c.4567-4A>G rs1055632728 0.00006
NM_021098.3(CACNA1H):c.4737G>A (p.Arg1579=) rs201270662 0.00006
NM_021098.3(CACNA1H):c.5039+16C>T rs58019636 0.00006
NM_021098.3(CACNA1H):c.5173+11G>A rs369914581 0.00006
NM_021098.3(CACNA1H):c.5174-20C>T rs749624753 0.00006
NM_021098.3(CACNA1H):c.5511C>T (p.Pro1837=) rs58819745 0.00006
NM_021098.3(CACNA1H):c.6049-10G>A rs199547941 0.00006
NM_021098.3(CACNA1H):c.6720C>G (p.Ala2240=) rs375725132 0.00006
NM_021098.3(CACNA1H):c.1221C>T (p.Ser407=) rs370061462 0.00005
NM_021098.3(CACNA1H):c.138C>T (p.Leu46=) rs960225573 0.00005
NM_021098.3(CACNA1H):c.2715C>T (p.Leu905=) rs746896203 0.00005
NM_021098.3(CACNA1H):c.3135C>G (p.Leu1045=) rs560635024 0.00005
NM_021098.3(CACNA1H):c.3155-4G>A rs543267343 0.00005
NM_021098.3(CACNA1H):c.4039-17C>T rs775820161 0.00005
NM_021098.3(CACNA1H):c.4223+14C>T rs538104013 0.00005
NM_021098.3(CACNA1H):c.4778-4G>A rs779949902 0.00005
NM_021098.3(CACNA1H):c.576C>T (p.Asn192=) rs754501360 0.00005
NM_021098.3(CACNA1H):c.5888-16T>A rs965860206 0.00005
NM_021098.3(CACNA1H):c.699C>T (p.Val233=) rs200398792 0.00005
NM_021098.3(CACNA1H):c.1035C>T (p.Asn345=) rs751812661 0.00004
NM_021098.3(CACNA1H):c.1665G>A (p.Ala555=) rs753841406 0.00004
NM_021098.3(CACNA1H):c.2318G>A (p.Gly773Asp) rs267606697 0.00004
NM_021098.3(CACNA1H):c.2568G>A (p.Pro856=) rs372206587 0.00004
NM_021098.3(CACNA1H):c.2778T>C (p.Ile926=) rs745368829 0.00004
NM_021098.3(CACNA1H):c.2892C>T (p.Ile964=) rs769118582 0.00004
NM_021098.3(CACNA1H):c.3636C>A (p.Thr1212=) rs767435491 0.00004
NM_021098.3(CACNA1H):c.4224-7C>T rs768524941 0.00004
NM_021098.3(CACNA1H):c.5664C>T (p.Pro1888=) rs761380706 0.00004
NM_021098.3(CACNA1H):c.6049-11C>T rs764862065 0.00004
NM_021098.3(CACNA1H):c.6360C>T (p.Pro2120=) rs369048631 0.00004
NM_021098.3(CACNA1H):c.6633C>T (p.Gly2211=) rs1362184958 0.00004
NM_021098.3(CACNA1H):c.6663G>A (p.Pro2221=) rs368014968 0.00004
NM_021098.3(CACNA1H):c.1206C>G (p.Leu402=) rs764371721 0.00003
NM_021098.3(CACNA1H):c.1539G>A (p.Ser513=) rs770284927 0.00003
NM_021098.3(CACNA1H):c.1938C>T (p.His646=) rs771171443 0.00003
NM_021098.3(CACNA1H):c.1992C>T (p.Val664=) rs764559629 0.00003
NM_021098.3(CACNA1H):c.2208C>T (p.His736=) rs376616017 0.00003
NM_021098.3(CACNA1H):c.2789+10A>G rs535085854 0.00003
NM_021098.3(CACNA1H):c.2841C>T (p.Thr947=) rs775833368 0.00003
NM_021098.3(CACNA1H):c.2931C>T (p.Asn977=) rs376470846 0.00003
NM_021098.3(CACNA1H):c.3339G>A (p.Pro1113=) rs368155283 0.00003
NM_021098.3(CACNA1H):c.3364-13C>T rs780323364 0.00003
NM_021098.3(CACNA1H):c.4863C>T (p.Leu1621=) rs951676471 0.00003
NM_021098.3(CACNA1H):c.6034C>T (p.Leu2012=) rs4609848 0.00003
NM_021098.3(CACNA1H):c.6321C>T (p.Ser2107=) rs753643337 0.00003
NM_021098.3(CACNA1H):c.643+13C>A rs372696554 0.00003
NM_021098.3(CACNA1H):c.822C>T (p.Phe274=) rs535504262 0.00003
NM_021098.3(CACNA1H):c.993C>A (p.Gly331=) rs770821118 0.00003
NM_021098.3(CACNA1H):c.1128G>A (p.Thr376=) rs1338263000 0.00002
NM_021098.3(CACNA1H):c.1719C>T (p.His573=) rs964041008 0.00002
NM_021098.3(CACNA1H):c.2541C>T (p.Cys847=) rs201227047 0.00002
NM_021098.3(CACNA1H):c.4224-11C>T rs371952675 0.00002
NM_021098.3(CACNA1H):c.5754G>A (p.Lys1918=) rs764500957 0.00002
NM_021098.3(CACNA1H):c.6119C>T (p.Pro2040Leu) rs776422410 0.00002
NM_021098.3(CACNA1H):c.6378C>T (p.Ala2126=) rs780808265 0.00002
NM_021098.3(CACNA1H):c.644-7C>T rs545310896 0.00002
NM_021098.3(CACNA1H):c.1317C>T (p.Arg439=) rs753868121 0.00001
NM_021098.3(CACNA1H):c.1692C>T (p.Arg564=) rs1259091648 0.00001
NM_021098.3(CACNA1H):c.2367C>T (p.Ile789=) rs761519926 0.00001
NM_021098.3(CACNA1H):c.2406C>T (p.Ala802=) rs745614463 0.00001
NM_021098.3(CACNA1H):c.2452-12C>T rs762240161 0.00001
NM_021098.3(CACNA1H):c.282C>T (p.Leu94=) rs960703593 0.00001
NM_021098.3(CACNA1H):c.3064-15C>T rs371897810 0.00001
NM_021098.3(CACNA1H):c.312C>T (p.His104=) rs370735613 0.00001
NM_021098.3(CACNA1H):c.3654C>T (p.Asp1218=) rs200922359 0.00001
NM_021098.3(CACNA1H):c.3933C>T (p.Ile1311=) rs200353061 0.00001
NM_021098.3(CACNA1H):c.4038+8G>A rs555282047 0.00001
NM_021098.3(CACNA1H):c.4995A>G (p.Ala1665=) rs776954477 0.00001
NM_021098.3(CACNA1H):c.5091G>A (p.Thr1697=) rs779699766 0.00001
NM_021098.3(CACNA1H):c.545+10G>T rs748867788 0.00001
NM_021098.3(CACNA1H):c.5529C>T (p.Phe1843=) rs758391189 0.00001
NM_021098.3(CACNA1H):c.5934C>T (p.Ser1978=) rs896695448 0.00001
NM_021098.3(CACNA1H):c.6027C>T (p.Leu2009=) rs766357140 0.00001
NM_021098.3(CACNA1H):c.6441G>A (p.Pro2147=) rs759684037 0.00001
NM_021098.3(CACNA1H):c.6486C>T (p.Ser2162=) rs113962757 0.00001
NM_021098.3(CACNA1H):c.6783G>C (p.Leu2261=) rs1176114621 0.00001
NM_021098.3(CACNA1H):c.825G>A (p.Leu275=) rs747311145 0.00001
NM_021098.3(CACNA1H):c.843G>A (p.Thr281=) rs761655532 0.00001
NM_021098.3(CACNA1H):c.1260G>A (p.Thr420=) rs58198225
NM_021098.3(CACNA1H):c.1701C>T (p.Pro567=) rs763608019
NM_021098.3(CACNA1H):c.2058C>T (p.Pro686=) rs2141277940
NM_021098.3(CACNA1H):c.2061C>T (p.Ser687=) rs554718345
NM_021098.3(CACNA1H):c.2153A>G (p.Glu718Gly) rs538923520
NM_021098.3(CACNA1H):c.21C>T (p.Ala7=) rs904297221
NM_021098.3(CACNA1H):c.2454C>T (p.Pro818=) rs545917540
NM_021098.3(CACNA1H):c.2553C>T (p.Gly851=) rs377029056
NM_021098.3(CACNA1H):c.2604C>T (p.Ser868=) rs562148225
NM_021098.3(CACNA1H):c.299+14_299+15inv
NM_021098.3(CACNA1H):c.300-5G>A rs748626072
NM_021098.3(CACNA1H):c.3081C>T (p.Ser1027=) rs369351441
NM_021098.3(CACNA1H):c.3154+12C>T rs779364761
NM_021098.3(CACNA1H):c.3745-14G>A rs8056494
NM_021098.3(CACNA1H):c.3804C>T (p.Ser1268=) rs750607074
NM_021098.3(CACNA1H):c.4224-17C>G rs565477632
NM_021098.3(CACNA1H):c.4665C>T (p.Val1555=) rs752944065
NM_021098.3(CACNA1H):c.4803C>G (p.Ala1601=) rs559982155
NM_021098.3(CACNA1H):c.4851C>T (p.His1617=) rs534178272
NM_021098.3(CACNA1H):c.4929+8C>T rs59027578
NM_021098.3(CACNA1H):c.5039+17C>T rs201391366
NM_021098.3(CACNA1H):c.5173+13G>C rs542071111
NM_021098.3(CACNA1H):c.5173+19G>A rs753759563
NM_021098.3(CACNA1H):c.5245-11C>G rs150441087
NM_021098.3(CACNA1H):c.5245-11C>T rs150441087
NM_021098.3(CACNA1H):c.5324-16G>T rs374872701
NM_021098.3(CACNA1H):c.5367C>T (p.Ala1789=) rs868670809
NM_021098.3(CACNA1H):c.537C>T (p.Val179=) rs368785828
NM_021098.3(CACNA1H):c.5655G>T (p.Ala1885=) rs58632975
NM_021098.3(CACNA1H):c.6048+17del rs3833845
NM_021098.3(CACNA1H):c.6621C>G (p.Ser2207=) rs371375487
NM_021098.3(CACNA1H):c.6621C>T (p.Ser2207=) rs371375487
NM_021098.3(CACNA1H):c.6720C>T (p.Ala2240=) rs375725132
NM_021098.3(CACNA1H):c.6858C>T (p.His2286=) rs1468998569
NM_021098.3(CACNA1H):c.864G>A (p.Pro288=) rs369201438
NM_021098.3(CACNA1H):c.999A>G (p.Ala333=) rs529471626

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