ClinVar Miner

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

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Gene type:
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Total variants: 144
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HGVS dbSNP gnomAD frequency
NM_021098.3(CACNA1H):c.3846-6A>C rs780882373 0.14047
NM_021098.3(CACNA1H):c.2452-281C>T rs71384635 0.03805
NM_021098.3(CACNA1H):c.803+279C>T rs191117454 0.03009
NM_021098.3(CACNA1H):c.2452-154_2452-153insA rs1344722130 0.02778
NM_021098.3(CACNA1H):c.2003-261C>T rs144819637 0.02315
NM_021098.3(CACNA1H):c.4929+78T>C rs72552062 0.02035
NM_021098.3(CACNA1H):c.4778-118G>T rs112290002 0.01606
NM_021098.3(CACNA1H):c.1664C>T (p.Ala555Val) rs9924241 0.01528
NM_021098.3(CACNA1H):c.1212+23G>A rs60309396 0.01525
NM_021098.3(CACNA1H):c.5897C>T (p.Ala1966Val) rs72552054 0.01514
NM_021098.3(CACNA1H):c.3064-72G>A rs57335218 0.01439
NM_021098.3(CACNA1H):c.411+151G>A rs9939215 0.01374
NM_021098.3(CACNA1H):c.994G>A (p.Ala332Thr) rs59650398 0.01351
NM_021098.3(CACNA1H):c.2452-324_2452-323insTAGAT rs1567522075 0.01344
NM_021098.3(CACNA1H):c.546-10C>T rs35509671 0.01282
NM_021098.3(CACNA1H):c.93G>A (p.Glu31=) rs191613214 0.01279
NM_021098.3(CACNA1H):c.3738G>A (p.Ser1246=) rs58812334 0.01201
NM_021098.3(CACNA1H):c.4777+182A>G rs60416573 0.01090
NM_021098.3(CACNA1H):c.5173+37G>A rs200739898 0.00998
NM_021098.3(CACNA1H):c.3364-196G>A rs144298575 0.00972
NM_021098.3(CACNA1H):c.6939C>T (p.Pro2313=) rs59385968 0.00957
NM_021098.3(CACNA1H):c.6049-72G>A rs114708863 0.00955
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.4635C>T (p.Phe1545=) rs58110336 0.00885
NM_021098.3(CACNA1H):c.4929+18G>A rs59548273 0.00873
NM_021098.3(CACNA1H):c.2603+35C>T rs28365120 0.00862
NM_021098.3(CACNA1H):c.643+44G>A rs35907691 0.00851
NM_021098.3(CACNA1H):c.3364-52G>A rs12918216 0.00813
NM_021098.3(CACNA1H):c.2603+262G>A rs143249487 0.00765
NM_021098.3(CACNA1H):c.3175G>T (p.Ala1059Ser) rs41292285 0.00715
NM_021098.3(CACNA1H):c.1513C>T (p.Arg505Cys) rs60414549 0.00678
NM_021098.3(CACNA1H):c.644-87G>A rs116326670 0.00664
NM_021098.3(CACNA1H):c.803+68A>G rs140638186 0.00663
NM_021098.3(CACNA1H):c.5323+234A>G rs114380660 0.00646
NM_021098.3(CACNA1H):c.2881C>T (p.Leu961=) rs58615599 0.00607
NM_021098.3(CACNA1H):c.5113G>A (p.Ala1705Thr) rs148651456 0.00596
NM_021098.3(CACNA1H):c.3206G>A (p.Arg1069Gln) rs57633676 0.00591
NM_021098.3(CACNA1H):c.5324-4G>A rs57687113 0.00558
NM_021098.3(CACNA1H):c.4817C>T (p.Thr1606Met) rs59286323 0.00493
NM_021098.3(CACNA1H):c.4038+12C>T rs370831984 0.00414
NM_021098.3(CACNA1H):c.2789+26G>A rs377181514 0.00410
NM_021098.3(CACNA1H):c.5173+10C>T rs72554026 0.00407
NM_021098.3(CACNA1H):c.2002+164G>C rs116250967 0.00403
NM_021098.3(CACNA1H):c.270C>G (p.Arg90=) rs577235589 0.00390
NM_021098.3(CACNA1H):c.546-142C>T rs148444212 0.00390
NM_021098.3(CACNA1H):c.4224-6C>T rs72552039 0.00386
NM_021098.3(CACNA1H):c.804-70A>G rs114858281 0.00386
NM_021098.3(CACNA1H):c.4314C>T (p.Cys1438=) rs60275734 0.00378
NM_021098.3(CACNA1H):c.3331G>A (p.Gly1111Arg) rs59529743 0.00364
NM_021098.3(CACNA1H):c.411+83G>A rs532984461 0.00360
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.108G>C (p.Pro36=) rs28365126 0.00241
NM_021098.3(CACNA1H):c.6418G>A (p.Ala2140Thr) rs59487037 0.00237
NM_021098.3(CACNA1H):c.6622G>A (p.Ala2208Thr) rs60445853 0.00223
NM_021098.3(CACNA1H):c.*10T>A rs59336915 0.00202
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.2759C>T (p.Thr920Met) rs59052554 0.00164
NM_021098.3(CACNA1H):c.4778-5C>T rs72552061 0.00130
NM_021098.3(CACNA1H):c.2434G>A (p.Val812Met) rs28365119 0.00128
NM_021098.3(CACNA1H):c.6322G>A (p.Ala2108Thr) rs56930660 0.00126
NM_021098.3(CACNA1H):c.2057C>T (p.Pro686Leu) rs145376050 0.00109
NM_021098.3(CACNA1H):c.1824G>A (p.Leu608=) rs57260464 0.00083
NM_021098.3(CACNA1H):c.4584C>T (p.Asn1528=) rs200542719 0.00072
NM_021098.3(CACNA1H):c.2368G>A (p.Val790Met) rs28365116 0.00071
NM_021098.3(CACNA1H):c.918C>T (p.Pro306=) rs57468015 0.00065
NM_021098.3(CACNA1H):c.3362C>T (p.Pro1121Leu) rs200832286 0.00054
NM_021098.3(CACNA1H):c.3589G>A (p.Glu1197Lys) rs751423106 0.00048
NM_021098.3(CACNA1H):c.1853C>T (p.Pro618Leu) rs60734921 0.00046
NM_021098.3(CACNA1H):c.6222C>T (p.Phe2074=) rs373620549 0.00045
NM_021098.3(CACNA1H):c.3925G>A (p.Val1309Ile) rs201352768 0.00034
NM_021098.3(CACNA1H):c.4488G>A (p.Ser1496=) rs377112179 0.00029
NM_021098.3(CACNA1H):c.1655G>A (p.Arg552Gln) rs568224207 0.00026
NM_021098.3(CACNA1H):c.1517G>A (p.Arg506Gln) rs532223684 0.00024
NM_021098.3(CACNA1H):c.3408C>T (p.Gly1136=) rs61543423 0.00023
NM_021098.3(CACNA1H):c.4378G>A (p.Glu1460Lys) rs755817927 0.00021
NM_021098.3(CACNA1H):c.624C>T (p.Arg208=) rs56816479 0.00021
NM_021098.3(CACNA1H):c.2604-5C>T rs191783113 0.00017
NM_021098.3(CACNA1H):c.4608C>T (p.Ile1536=) rs777641943 0.00016
NM_021098.3(CACNA1H):c.6244C>T (p.Arg2082Trp) rs771719773 0.00016
NM_021098.3(CACNA1H):c.1794C>T (p.Ala598=) rs369322856 0.00011
NM_021098.3(CACNA1H):c.1197C>T (p.Phe399=) rs370035989 0.00010
NM_021098.3(CACNA1H):c.3300C>T (p.Leu1100=) rs568667163 0.00009
NM_021098.3(CACNA1H):c.3283G>A (p.Asp1095Asn) rs748648178 0.00007
NM_021098.3(CACNA1H):c.5208C>T (p.Arg1736=) rs112395878 0.00006
NM_021098.3(CACNA1H):c.5373C>T (p.Phe1791=) rs534503991 0.00006
NM_021098.3(CACNA1H):c.4365G>A (p.Lys1455=) rs373587418 0.00004
NM_021098.3(CACNA1H):c.2208C>T (p.His736=) rs376616017 0.00003
NM_021098.3(CACNA1H):c.3339G>A (p.Pro1113=) rs368155283 0.00003
NM_021098.3(CACNA1H):c.6867C>T (p.Thr2289=) rs1367258357 0.00003
NM_021098.3(CACNA1H):c.960G>A (p.Glu320=) rs779012601 0.00003
NM_021098.3(CACNA1H):c.3930C>A (p.Thr1310=) rs1045330600 0.00002
NM_021098.3(CACNA1H):c.3960C>T (p.Pro1320=) rs761762840 0.00002
NM_021098.3(CACNA1H):c.4701G>A (p.Ala1567=) rs375199752 0.00002
NM_021098.3(CACNA1H):c.4781C>T (p.Ala1594Val) rs539984495 0.00002
NM_021098.3(CACNA1H):c.528C>T (p.Phe176=) rs763776082 0.00002
NM_021098.3(CACNA1H):c.1237C>T (p.Leu413=) rs751828544 0.00001
NM_021098.3(CACNA1H):c.1452C>T (p.Ser484=) rs1477464961 0.00001
NM_021098.3(CACNA1H):c.1980C>A (p.Ile660=) rs769960413 0.00001
NM_021098.3(CACNA1H):c.3915C>T (p.Phe1305=) rs929332183 0.00001
NM_021098.3(CACNA1H):c.4548C>T (p.Ala1516=) rs986374718 0.00001
NM_021098.3(CACNA1H):c.4780G>T (p.Ala1594Ser) rs532865207 0.00001
NM_021098.3(CACNA1H):c.6371C>T (p.Pro2124Leu) rs372453886 0.00001
NM_021098.3(CACNA1H):c.657G>C (p.Leu219=) rs376669194 0.00001
NM_021098.3(CACNA1H):c.1092C>T (p.Ile364=)
NM_021098.3(CACNA1H):c.1605C>T (p.Ser535=)
NM_021098.3(CACNA1H):c.2002+67T>C rs115952318
NM_021098.3(CACNA1H):c.2061C>T (p.Ser687=) rs554718345
NM_021098.3(CACNA1H):c.2153A>C (p.Glu718Ala) rs538923520
NM_021098.3(CACNA1H):c.2451+105C>T rs116880320
NM_021098.3(CACNA1H):c.2451+177G>A
NM_021098.3(CACNA1H):c.2452-321_2452-320insTGCCGGGGAGGGGTGGGAGCCGTGGGTGGGGCCCTAG rs1567522091
NM_021098.3(CACNA1H):c.2547T>C (p.Pro849=) rs1242284062
NM_021098.3(CACNA1H):c.2985C>T (p.Phe995=) rs371675943
NM_021098.3(CACNA1H):c.306C>T (p.Phe102=)
NM_021098.3(CACNA1H):c.3155-64T>C
NM_021098.3(CACNA1H):c.3270C>T (p.Ser1090=) rs201113434
NM_021098.3(CACNA1H):c.339C>T (p.Asn113=)
NM_021098.3(CACNA1H):c.3498G>A (p.Leu1166=) rs768056172
NM_021098.3(CACNA1H):c.3555G>C (p.Ala1185=) rs370039255
NM_021098.3(CACNA1H):c.3736T>C (p.Ser1246Pro) rs1969157452
NM_021098.3(CACNA1H):c.3744+190C>A rs8050803
NM_021098.3(CACNA1H):c.3744+197C>T
NM_021098.3(CACNA1H):c.3846-10G>C rs377030217
NM_021098.3(CACNA1H):c.3852C>A (p.Arg1284=) rs374262237
NM_021098.3(CACNA1H):c.3936C>T (p.Ala1312=)
NM_021098.3(CACNA1H):c.4038+15G>T rs375169106
NM_021098.3(CACNA1H):c.4605C>T (p.Phe1535=)
NM_021098.3(CACNA1H):c.4974C>T (p.Ile1658=) rs1596469271
NM_021098.3(CACNA1H):c.5187G>A (p.Leu1729=) rs752668013
NM_021098.3(CACNA1H):c.5446-9C>A rs1596475466
NM_021098.3(CACNA1H):c.5916C>G (p.Pro1972=) rs979429805
NM_021098.3(CACNA1H):c.6339C>A (p.Pro2113=) rs768959857
NM_021098.3(CACNA1H):c.644-56C>T rs35181617
NM_021098.3(CACNA1H):c.6993T>C (p.Cys2331=) rs1555521325
NM_021098.3(CACNA1H):c.803+187C>G rs183628037
NM_021098.3(CACNA1H):c.804-198C>T
NM_021098.3(CACNA1H):c.804-50C>T rs72552031
NM_021098.3(CACNA1H):c.988G>A (p.Val330Met) rs752653043

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