ClinVar Miner

List of variants in gene CACNA1H reported as benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 121
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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.1809A>G (p.Arg603=) rs9934839 0.50649
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.5245-191G>C rs72552047 0.01151
NM_021098.3(CACNA1H):c.4350+35G>A rs12449100 0.01111
NM_021098.3(CACNA1H):c.2452-31C>T rs72775445 0.00897
NM_021098.3(CACNA1H):c.4038+41C>T rs61701475 0.00491
NM_021098.3(CACNA1H):c.489G>C (p.Gln163His) rs60593994 0.00318
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.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>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.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.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

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