ClinVar Miner

List of variants in gene CACNA1H reported as benign for EIG

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 101
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HGVS dbSNP
NM_021098.2(CACNA1H):c.1120-3delC rs748730819
NM_021098.2(CACNA1H):c.4223+8dup rs545116263
NM_021098.3(CACNA1H):c.1059C>T (p.Asn353=) rs59310656
NM_021098.3(CACNA1H):c.1120-8C>T rs59091981
NM_021098.3(CACNA1H):c.1213-7G>A rs372752869
NM_021098.3(CACNA1H):c.1218C>T (p.Gly406=) rs375730044
NM_021098.3(CACNA1H):c.1236C>T (p.Asn412=) rs59696308
NM_021098.3(CACNA1H):c.1359T>C (p.Pro453=) rs60720455
NM_021098.3(CACNA1H):c.1371C>T (p.Tyr457=) rs368758031
NM_021098.3(CACNA1H):c.1381C>T (p.Leu461=) rs57112868
NM_021098.3(CACNA1H):c.1479T>C (p.Ser493=) rs60415676
NM_021098.3(CACNA1H):c.1513C>T (p.Arg505Cys) rs60414549
NM_021098.3(CACNA1H):c.1664C>T (p.Ala555Val) rs9924241
NM_021098.3(CACNA1H):c.1702G>A (p.Asp568Asn) rs61056448
NM_021098.3(CACNA1H):c.1735G>A (p.Asp579Asn) rs200804807
NM_021098.3(CACNA1H):c.1824G>A (p.Leu608=) rs57260464
NM_021098.3(CACNA1H):c.1966C>T (p.Pro656Ser) rs59079584
NM_021098.3(CACNA1H):c.2030C>T (p.Ser677Leu) rs181892888
NM_021098.3(CACNA1H):c.2057C>T (p.Pro686Leu) rs145376050
NM_021098.3(CACNA1H):c.2145C>T (p.Ser715=) rs58212659
NM_021098.3(CACNA1H):c.2153A>C (p.Glu718Ala) rs538923520
NM_021098.3(CACNA1H):c.2229G>A (p.Thr743=) rs111986908
NM_021098.3(CACNA1H):c.2265C>T (p.Gly755=) rs61073355
NM_021098.3(CACNA1H):c.2310C>T (p.Gly770=) rs371026871
NM_021098.3(CACNA1H):c.2354A>T (p.Lys785Met) rs28365117
NM_021098.3(CACNA1H):c.2544C>A (p.Gly848=) rs28365123
NM_021098.3(CACNA1H):c.2544C>T (p.Gly848=) rs28365123
NM_021098.3(CACNA1H):c.2626G>A (p.Ala876Thr) rs58173258
NM_021098.3(CACNA1H):c.2631C>T (p.Asp877=) rs59636120
NM_021098.3(CACNA1H):c.2759C>T (p.Thr920Met) rs59052554
NM_021098.3(CACNA1H):c.2881C>T (p.Leu961=) rs58615599
NM_021098.3(CACNA1H):c.2907+9C>T rs200631961
NM_021098.3(CACNA1H):c.2967C>T (p.Ser989=) rs59090452
NM_021098.3(CACNA1H):c.3060G>A (p.Ala1020=) rs369924266
NM_021098.3(CACNA1H):c.3175G>T (p.Ala1059Ser) rs41292285
NM_021098.3(CACNA1H):c.3189C>T (p.Asn1063=) rs61394370
NM_021098.3(CACNA1H):c.3206G>A (p.Arg1069Gln) rs57633676
NM_021098.3(CACNA1H):c.3261C>A (p.Thr1087=) rs57606792
NM_021098.3(CACNA1H):c.3276A>T (p.Pro1092=) rs200569619
NM_021098.3(CACNA1H):c.3300C>T (p.Leu1100=) rs568667163
NM_021098.3(CACNA1H):c.3331G>A (p.Gly1111Arg) rs59529743
NM_021098.3(CACNA1H):c.3439A>G (p.Ser1147Gly) rs780122141
NM_021098.3(CACNA1H):c.3555G>A (p.Ala1185=) rs370039255
NM_021098.3(CACNA1H):c.3622G>A (p.Ala1208Thr) rs58394372
NM_021098.3(CACNA1H):c.3669C>T (p.Ala1223=) rs59954346
NM_021098.3(CACNA1H):c.3738G>A (p.Ser1246=) rs58812334
NM_021098.3(CACNA1H):c.3792G>T (p.Gln1264His) rs200228767
NM_021098.3(CACNA1H):c.390C>T (p.Ser130=) rs59794024
NM_021098.3(CACNA1H):c.3970-5G>A rs202115678
NM_021098.3(CACNA1H):c.3970-6C>T rs200403676
NM_021098.3(CACNA1H):c.4039-4G>A rs57315342
NM_021098.3(CACNA1H):c.4224-6C>T rs72552039
NM_021098.3(CACNA1H):c.4314C>T (p.Cys1438=) rs60275734
NM_021098.3(CACNA1H):c.4555G>A (p.Val1519Ile) rs1462779871
NM_021098.3(CACNA1H):c.4635C>T (p.Phe1545=) rs58110336
NM_021098.3(CACNA1H):c.4778-5C>T rs72552061
NM_021098.3(CACNA1H):c.4790G>A (p.Arg1597Gln) rs370079169
NM_021098.3(CACNA1H):c.4817C>T (p.Thr1606Met) rs59286323
NM_021098.3(CACNA1H):c.4836G>A (p.Ser1612=) rs58033848
NM_021098.3(CACNA1H):c.489G>C (p.Gln163His) rs60593994
NM_021098.3(CACNA1H):c.4929+8C>T rs59027578
NM_021098.3(CACNA1H):c.4932G>A (p.Ser1644=) rs58764017
NM_021098.3(CACNA1H):c.4983C>A (p.Val1661=) rs61382101
NM_021098.3(CACNA1H):c.4986C>T (p.Phe1662=) rs60938322
NM_021098.3(CACNA1H):c.498C>T (p.Tyr166=) rs58142268
NM_021098.3(CACNA1H):c.5113G>A (p.Ala1705Thr) rs148651456
NM_021098.3(CACNA1H):c.5173+10C>T rs72554026
NM_021098.3(CACNA1H):c.5253C>T (p.Asn1751=) rs57181695
NM_021098.3(CACNA1H):c.5324-4G>A rs57687113
NM_021098.3(CACNA1H):c.5378A>G (p.Asn1793Ser) rs72552051
NM_021098.3(CACNA1H):c.543G>A (p.Ala181=) rs781049180
NM_021098.3(CACNA1H):c.5445+4C>T rs147142971
NM_021098.3(CACNA1H):c.5445+7G>A rs563361414
NM_021098.3(CACNA1H):c.546-10C>T rs35509671
NM_021098.3(CACNA1H):c.5493C>T (p.Tyr1831=) rs60218977
NM_021098.3(CACNA1H):c.5655G>A (p.Ala1885=) rs58632975
NM_021098.3(CACNA1H):c.5675G>T (p.Arg1892Leu) rs58667649
NM_021098.3(CACNA1H):c.5832C>T (p.His1944=) rs372529098
NM_021098.3(CACNA1H):c.5840C>T (p.Pro1947Leu) rs59935412
NM_021098.3(CACNA1H):c.5897C>T (p.Ala1966Val) rs72552054
NM_021098.3(CACNA1H):c.5921A>G (p.Glu1974Gly) rs3751886
NM_021098.3(CACNA1H):c.5989G>A (p.Ala1997Thr) rs376628149
NM_021098.3(CACNA1H):c.6027C>T (p.Leu2009=) rs766357140
NM_021098.3(CACNA1H):c.6195C>T (p.Ala2065=) rs375589233
NM_021098.3(CACNA1H):c.6234C>T (p.Cys2078=) rs59844753
NM_021098.3(CACNA1H):c.6273C>T (p.Ala2091=) rs59297244
NM_021098.3(CACNA1H):c.6324C>T (p.Ala2108=) rs57670193
NM_021098.3(CACNA1H):c.6417_6418inv (p.Ala2140Thr)
NM_021098.3(CACNA1H):c.6517C>T (p.Pro2173Ser) rs200675829
NM_021098.3(CACNA1H):c.6543G>A (p.Ala2181=) rs117964326
NM_021098.3(CACNA1H):c.6579G>A (p.Ser2193=) rs200017975
NM_021098.3(CACNA1H):c.6717C>T (p.Gly2239=) rs143733790
NM_021098.3(CACNA1H):c.6848A>T (p.Asp2283Val) rs58597457
NM_021098.3(CACNA1H):c.6934A>G (p.Met2312Val) rs58535913
NM_021098.3(CACNA1H):c.6939C>T (p.Pro2313=) rs59385968
NM_021098.3(CACNA1H):c.819C>T (p.Thr273=) rs72552033
NM_021098.3(CACNA1H):c.827G>A (p.Arg276Gln) rs59709076
NM_021098.3(CACNA1H):c.888C>T (p.Asp296=) rs79829712
NM_021098.3(CACNA1H):c.93G>A (p.Glu31=) rs191613214
NM_021098.3(CACNA1H):c.993C>A (p.Gly331=) rs770821118
NM_021098.3(CACNA1H):c.994G>A (p.Ala332Thr) rs59650398

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