ClinVar Miner

List of variants in gene CACNA1H reported as benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 186
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_021098.3(CACNA1H):c.5245-129_5245-128insT rs11395347 0.98282
NM_021098.3(CACNA1H):c.6048+292T>C rs7195608 0.87098
NM_021098.3(CACNA1H):c.6048+162T>C rs4496143 0.85524
NM_021098.3(CACNA1H):c.6417T>C (p.Asp2139=) rs4247094 0.85388
NM_021098.3(CACNA1H):c.3957T>C (p.Asp1319=) rs8063574 0.85136
NM_021098.3(CACNA1H):c.4338T>C (p.Ile1446=) rs4984637 0.85027
NM_021098.3(CACNA1H):c.5244+127C>T rs3897150 0.84380
NM_021098.3(CACNA1H):c.5324-263C>G rs12930662 0.83778
NM_021098.3(CACNA1H):c.3064-39G>A rs12930875 0.78233
NM_021098.3(CACNA1H):c.5887+107A>G rs2738892 0.75440
NM_021098.3(CACNA1H):c.4278A>G (p.Ser1426=) rs2753325 0.65866
NM_021098.3(CACNA1H):c.4275A>G (p.Ser1425=) rs2753326 0.65842
NM_021098.3(CACNA1H):c.4350+83G>A rs2738900 0.65766
NM_021098.3(CACNA1H):c.6049-241A>G rs2745137 0.65098
NM_021098.3(CACNA1H):c.6049-301G>A rs2738895 0.65073
NM_021098.3(CACNA1H):c.6230G>A (p.Arg2077His) rs1054645 0.64981
NM_021098.3(CACNA1H):c.5730C>T (p.Asp1910=) rs2745136 0.64782
NM_021098.3(CACNA1H):c.*195G>A rs2248457 0.64722
NM_021098.3(CACNA1H):c.4224-49G>A rs2738899 0.64233
NM_021098.3(CACNA1H):c.5947T>C (p.Leu1983=) rs2738893 0.63925
NM_021098.3(CACNA1H):c.4223+53C>T rs2738898 0.62945
NM_021098.3(CACNA1H):c.4778-270G>A rs2738903 0.54732
NM_021098.3(CACNA1H):c.1107T>C (p.Ile369=) rs8044363 0.44103
NM_021098.3(CACNA1H):c.643+232A>C rs1005453 0.43865
NM_021098.3(CACNA1H):c.1213-101G>A rs8043905 0.43237
NM_021098.3(CACNA1H):c.2603+280T>C rs2745167 0.43187
NM_021098.3(CACNA1H):c.300-85T>A rs3751661 0.43048
NM_021098.3(CACNA1H):c.3745-308G>A rs12051002 0.39673
NM_021098.3(CACNA1H):c.5244+261C>T rs12920709 0.38661
NM_021098.3(CACNA1H):c.1919C>T (p.Pro640Leu) rs61734410 0.29755
NM_021098.3(CACNA1H):c.3846-16G>C rs764918796 0.27517
NM_021098.3(CACNA1H):c.3846-32G>C rs776363640 0.26069
NM_021098.3(CACNA1H):c.412-139G>A rs35250176 0.22699
NM_021098.3(CACNA1H):c.2451+119T>C rs11640345 0.22422
NM_021098.3(CACNA1H):c.2604-272C>T rs35482321 0.22131
NM_021098.3(CACNA1H):c.300-341C>T rs35198836 0.21842
NM_021098.3(CACNA1H):c.3846-27A>C rs768865795 0.20436
NM_021098.3(CACNA1H):c.1991T>C (p.Val664Ala) rs4984636 0.20272
NM_021098.3(CACNA1H):c.3155-73T>C rs2738896 0.19817
NM_021098.3(CACNA1H):c.2002+285G>C rs7191246 0.18750
NM_021098.3(CACNA1H):c.2452-323C>T rs71384633 0.16538
NM_021098.3(CACNA1H):c.644-244C>T rs11643076 0.16370
NM_021098.3(CACNA1H):c.2790-162T>C rs115172853 0.13061
NM_021098.3(CACNA1H):c.937A>G (p.Met313Val) rs36117280 0.12769
NM_021098.3(CACNA1H):c.5244+7G>A rs2235634 0.10432
NM_021098.3(CACNA1H):c.644-301C>G rs35907934 0.10221
NM_021098.3(CACNA1H):c.803+116C>T rs35395847 0.10188
NM_021098.3(CACNA1H):c.2603+125C>T rs2745165 0.10144
NM_021098.3(CACNA1H):c.804-283del rs34191558 0.10087
NM_021098.3(CACNA1H):c.1353C>T (p.Ser451=) rs9922076 0.09939
NM_021098.3(CACNA1H):c.1668C>T (p.Pro556=) rs2407083 0.09922
NM_021098.3(CACNA1H):c.803+163C>T rs7500621 0.09467
NM_021098.3(CACNA1H):c.4221G>A (p.Leu1407=) rs61910714 0.09043
NM_021098.3(CACNA1H):c.*101C>T rs2745138 0.08983
NM_021098.3(CACNA1H):c.6048+182C>T rs2738894 0.08972
NM_021098.3(CACNA1H):c.5721C>T (p.Gly1907=) rs2738891 0.08967
NM_021098.3(CACNA1H):c.6179G>A (p.Arg2060His) rs1054644 0.08945
NM_021098.3(CACNA1H):c.5244+28G>A rs2753322 0.08924
NM_021098.3(CACNA1H):c.5245-256G>A rs2753324 0.08840
NM_021098.3(CACNA1H):c.3744+44G>C rs2745166 0.08697
NM_021098.3(CACNA1H):c.2604-19C>T rs11646893 0.07745
NM_021098.3(CACNA1H):c.2362C>T (p.Arg788Cys) rs3751664 0.07491
NM_021098.3(CACNA1H):c.3064-136C>T rs2745155 0.07369
NM_021098.3(CACNA1H):c.2452-293C>T rs71384634 0.07300
NM_021098.3(CACNA1H):c.6123T>C (p.Gly2041=) rs3751889 0.05412
NM_021098.3(CACNA1H):c.412-71C>T rs59721152 0.05324
NM_021098.3(CACNA1H):c.5921A>G (p.Glu1974Gly) rs3751886 0.05247
NM_021098.3(CACNA1H):c.5888-141G>A rs11866966 0.05113
NM_021098.3(CACNA1H):c.5418G>C (p.Thr1806=) rs57135930 0.04916
NM_021098.3(CACNA1H):c.6013C>T (p.Arg2005Cys) rs72552056 0.04911
NM_021098.3(CACNA1H):c.2790-99C>G rs118070675 0.04775
NM_021098.3(CACNA1H):c.5778G>A (p.Ser1926=) rs60526088 0.04674
NM_021098.3(CACNA1H):c.6048+53A>G rs72552058 0.04593
NM_021098.3(CACNA1H):c.4930-270C>T rs72775449 0.04590
NM_021098.3(CACNA1H):c.4023G>A (p.Ala1341=) rs28365124 0.04584
NM_021098.3(CACNA1H):c.5245-203A>G rs67263891 0.04584
NM_021098.3(CACNA1H):c.5245-245G>A rs112734714 0.04462
NM_021098.3(CACNA1H):c.5612G>A (p.Arg1871Gln) rs58124832 0.04404
NM_021098.3(CACNA1H):c.3969+35C>T rs111903030 0.04234
NM_021098.3(CACNA1H):c.644-88C>T rs34873336 0.03822
NM_021098.3(CACNA1H):c.390C>T (p.Ser130=) rs59794024 0.03762
NM_021098.3(CACNA1H):c.5244+298G>A rs71380250 0.03734
NM_021098.3(CACNA1H):c.3363+91G>A rs72552035 0.03400
NM_021098.3(CACNA1H):c.6048+13G>A rs3751888 0.03131
NM_021098.3(CACNA1H):c.804-160C>G rs114319122 0.02445
NM_021098.3(CACNA1H):c.4476+30G>T rs72552044 0.02050
NM_021098.3(CACNA1H):c.3364-104A>G rs112741452 0.01783
NM_021098.3(CACNA1H):c.411+40G>A rs72556375 0.01722
NM_021098.3(CACNA1H):c.1664C>T (p.Ala555Val) rs9924241 0.01528
NM_021098.3(CACNA1H):c.93G>A (p.Glu31=) rs191613214 0.01279
NM_021098.3(CACNA1H):c.5245-191G>C rs72552047 0.01151
NM_021098.3(CACNA1H):c.4350+35G>A rs12449100 0.01111
NM_021098.3(CACNA1H):c.6234C>T (p.Cys2078=) rs59844753 0.00947
NM_021098.3(CACNA1H):c.1120-8C>T rs59091981 0.00928
NM_021098.3(CACNA1H):c.2452-31C>T rs72775445 0.00897
NM_021098.3(CACNA1H):c.4635C>T (p.Phe1545=) rs58110336 0.00885
NM_021098.3(CACNA1H):c.3189C>T (p.Asn1063=) rs61394370 0.00768
NM_021098.3(CACNA1H):c.3175G>T (p.Ala1059Ser) rs41292285 0.00715
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.2881C>T (p.Leu961=) rs58615599 0.00607
NM_021098.3(CACNA1H):c.5840C>T (p.Pro1947Leu) rs59935412 0.00605
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.1381C>T (p.Leu461=) rs57112868 0.00508
NM_021098.3(CACNA1H):c.1359T>C (p.Pro453=) rs60720455 0.00507
NM_021098.3(CACNA1H):c.4038+41C>T rs61701475 0.00491
NM_021098.3(CACNA1H):c.2265C>T (p.Gly755=) rs61073355 0.00480
NM_021098.3(CACNA1H):c.1236C>T (p.Asn412=) rs59696308 0.00434
NM_021098.3(CACNA1H):c.270C>G (p.Arg90=) rs577235589 0.00390
NM_021098.3(CACNA1H):c.2967C>T (p.Ser989=) rs59090452 0.00320
NM_021098.3(CACNA1H):c.489G>C (p.Gln163His) rs60593994 0.00318
NM_021098.3(CACNA1H):c.2354A>T (p.Lys785Met) rs28365117 0.00299
NM_021098.3(CACNA1H):c.5445+4C>T rs147142971 0.00295
NM_021098.3(CACNA1H):c.4039-4G>A rs57315342 0.00287
NM_021098.3(CACNA1H):c.3846-10G>A rs377030217 0.00260
NM_021098.3(CACNA1H):c.6418G>A (p.Ala2140Thr) rs59487037 0.00237
NM_021098.3(CACNA1H):c.2145C>T (p.Ser715=) rs58212659 0.00220
NM_021098.3(CACNA1H):c.*10T>A rs59336915 0.00202
NM_021098.3(CACNA1H):c.6717C>T (p.Gly2239=) rs143733790 0.00186
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.6934A>G (p.Met2312Val) rs58535913 0.00170
NM_021098.3(CACNA1H):c.2626G>A (p.Ala876Thr) rs58173258 0.00169
NM_021098.3(CACNA1H):c.2759C>T (p.Thr920Met) rs59052554 0.00164
NM_021098.3(CACNA1H):c.819C>T (p.Thr273=) rs72552033 0.00150
NM_021098.3(CACNA1H):c.6653G>A (p.Arg2218His) rs56885166 0.00136
NM_021098.3(CACNA1H):c.4778-5C>T rs72552061 0.00130
NM_021098.3(CACNA1H):c.1059C>T (p.Asn353=) rs59310656 0.00117
NM_021098.3(CACNA1H):c.2057C>T (p.Pro686Leu) rs145376050 0.00109
NM_021098.3(CACNA1H):c.385G>A (p.Gly129Ser) rs187596702 0.00107
NM_021098.3(CACNA1H):c.1702G>A (p.Asp568Asn) rs61056448 0.00086
NM_021098.3(CACNA1H):c.3364-3C>T rs57079020 0.00086
NM_021098.3(CACNA1H):c.1824G>A (p.Leu608=) rs57260464 0.00083
NM_021098.3(CACNA1H):c.5924C>T (p.Ser1975Phe) rs186422070 0.00083
NM_021098.3(CACNA1H):c.3276A>T (p.Pro1092=) rs200569619 0.00080
NM_021098.3(CACNA1H):c.4584C>T (p.Asn1528=) rs200542719 0.00072
NM_021098.3(CACNA1H):c.918C>T (p.Pro306=) rs57468015 0.00065
NM_021098.3(CACNA1H):c.2229G>A (p.Thr743=) rs111986908 0.00058
NM_021098.3(CACNA1H):c.6198C>T (p.Ser2066=) rs375020212 0.00048
NM_021098.3(CACNA1H):c.6324C>T (p.Ala2108=) rs57670193 0.00041
NM_021098.3(CACNA1H):c.2151G>A (p.Ser717=) rs200423899 0.00036
NM_021098.3(CACNA1H):c.3970-5G>A rs202115678 0.00036
NM_021098.3(CACNA1H):c.3555G>A (p.Ala1185=) rs370039255 0.00032
NM_021098.3(CACNA1H):c.6517C>T (p.Pro2173Ser) rs200675829 0.00024
NM_021098.3(CACNA1H):c.2604-5C>T rs191783113 0.00017
NM_021098.3(CACNA1H):c.5832C>T (p.His1944=) rs372529098 0.00013
NM_021098.3(CACNA1H):c.4836G>A (p.Ser1612=) rs58033848 0.00010
NM_021098.3(CACNA1H):c.4737G>A (p.Arg1579=) rs201270662 0.00006
GRCh37/hg19 16p13.3(chr16:1234842-1246270)x1
GRCh37/hg19 16p13.3(chr16:1235409-1250559)x1
GRCh37/hg19 16p13.3(chr16:1251760-1255545)x4
NM_021098.3(CACNA1H):c.-159GGCGGAGGCGCTGGGGGCCGGGGCCGGGGCCGGG[1] rs1339556967
NM_021098.3(CACNA1H):c.1212+12C>T rs8060577
NM_021098.3(CACNA1H):c.1213-183T>G rs76029271
NM_021098.3(CACNA1H):c.1966C>T (p.Pro656Ser) rs59079584
NM_021098.3(CACNA1H):c.2002+147C>T rs9924677
NM_021098.3(CACNA1H):c.2003-103G>T rs4984768
NM_021098.3(CACNA1H):c.2003-279C>T rs75852667
NM_021098.3(CACNA1H):c.2452-153_2452-70del rs1567522322
NM_021098.3(CACNA1H):c.2452-84A>G rs2974835
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.2604-219A>G rs8049080
NM_021098.3(CACNA1H):c.2604-88C>A rs117673391
NM_021098.3(CACNA1H):c.299+20_299+40del rs147910127
NM_021098.3(CACNA1H):c.299+80A>G rs112034409
NM_021098.3(CACNA1H):c.300-95G>A rs9936834
NM_021098.3(CACNA1H):c.3363+129A>T
NM_021098.3(CACNA1H):c.3363+201C>T
NM_021098.3(CACNA1H):c.3363+293G>A
NM_021098.3(CACNA1H):c.3745-289G>A rs8049748
NM_021098.3(CACNA1H):c.3846-20A>C rs773276537
NM_021098.3(CACNA1H):c.3846-24T>C rs768109411
NM_021098.3(CACNA1H):c.4224-82C>A rs72552038
NM_021098.3(CACNA1H):c.4759+172C>A rs111255867
NM_021098.3(CACNA1H):c.4778-275G>T rs118038000
NM_021098.3(CACNA1H):c.4778-311A>G rs9328916
NM_021098.3(CACNA1H):c.4929+8C>T rs59027578
NM_021098.3(CACNA1H):c.5675G>T (p.Arg1892Leu) rs58667649
NM_021098.3(CACNA1H):c.6048+17del rs3833845
NM_021098.3(CACNA1H):c.6049-189_6049-188del rs3833847
NM_021098.3(CACNA1H):c.643+188G>A rs3738077
NM_021098.3(CACNA1H):c.643+247A>G rs1005454
NM_021098.3(CACNA1H):c.644-241G>C rs34569984
NM_021098.3(CACNA1H):c.803+178A>C rs190211190

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.