ClinVar Miner

List of variants in gene CACNA1H reported by Athena Diagnostics Inc

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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.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.4278A>G (p.Ser1426=) rs2753325 0.65866
NM_021098.3(CACNA1H):c.4275A>G (p.Ser1425=) rs2753326 0.65842
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.5947T>C (p.Leu1983=) rs2738893 0.63925
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.1919C>T (p.Pro640Leu) rs61734410 0.29755
NM_021098.3(CACNA1H):c.1991T>C (p.Val664Ala) rs4984636 0.20272
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.1353C>T (p.Ser451=) rs9922076 0.09939
NM_021098.3(CACNA1H):c.1668C>T (p.Pro556=) rs2407083 0.09922
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.2362C>T (p.Arg788Cys) rs3751664 0.07491
NM_021098.3(CACNA1H):c.6123T>C (p.Gly2041=) rs3751889 0.05412
NM_021098.3(CACNA1H):c.5921A>G (p.Glu1974Gly) rs3751886 0.05247
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.5778G>A (p.Ser1926=) rs60526088 0.04674
NM_021098.3(CACNA1H):c.4023G>A (p.Ala1341=) rs28365124 0.04584
NM_021098.3(CACNA1H):c.5612G>A (p.Arg1871Gln) rs58124832 0.04404
NM_021098.3(CACNA1H):c.1664C>T (p.Ala555Val) rs9924241 0.01528
NM_021098.3(CACNA1H):c.5897C>T (p.Ala1966Val) rs72552054 0.01514
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.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.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.5113G>A (p.Ala1705Thr) rs148651456 0.00596
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.4817C>T (p.Thr1606Met) rs59286323 0.00493
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.2145C>T (p.Ser715=) rs58212659 0.00220
NM_021098.3(CACNA1H):c.4420C>T (p.Arg1474Trp) rs57105517 0.00209
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.6195C>T (p.Ala2065=) rs375589233 0.00171
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.6322G>A (p.Ala2108Thr) rs56930660 0.00126
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.3115G>A (p.Glu1039Lys) rs140421233 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.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.1853C>T (p.Pro618Leu) rs60734921 0.00046
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.2264G>A (p.Gly755Asp) rs142306293 0.00032
NM_021098.3(CACNA1H):c.1778_1789del (p.His593_Thr597delinsPro) rs768475346 0.00030
NM_021098.3(CACNA1H):c.5988C>T (p.His1996=) rs534974071 0.00027
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.6517C>T (p.Pro2173Ser) rs200675829 0.00024
NM_021098.3(CACNA1H):c.1495G>A (p.Gly499Ser) rs560915333 0.00022
NM_021098.3(CACNA1H):c.4759+8G>A rs199997129 0.00019
NM_021098.3(CACNA1H):c.4120G>A (p.Val1374Met) rs201855332 0.00018
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.1753C>T (p.Pro585Ser) rs535609762 0.00014
NM_021098.3(CACNA1H):c.6440C>T (p.Pro2147Leu) rs748980218 0.00013
NM_021098.3(CACNA1H):c.1794C>T (p.Ala598=) rs369322856 0.00011
NM_021098.3(CACNA1H):c.1309C>T (p.Arg437Trp) rs377061296 0.00010
NM_021098.3(CACNA1H):c.1610G>A (p.Arg537His) rs548407874 0.00010
NM_021098.3(CACNA1H):c.4836G>A (p.Ser1612=) rs58033848 0.00010
NM_021098.3(CACNA1H):c.5081T>C (p.Met1694Thr) rs375015931 0.00009
NM_021098.3(CACNA1H):c.6023G>T (p.Ser2008Ile) rs750277154 0.00009
NM_021098.3(CACNA1H):c.3439A>G (p.Ser1147Gly) rs780122141 0.00008
NM_021098.3(CACNA1H):c.3283G>A (p.Asp1095Asn) rs748648178 0.00007
NM_021098.3(CACNA1H):c.2215C>T (p.Arg739Cys) rs371167728 0.00006
NM_021098.3(CACNA1H):c.4426G>A (p.Ala1476Thr) rs374297889 0.00006
NM_021098.3(CACNA1H):c.4737G>A (p.Arg1579=) rs201270662 0.00006
NM_021098.3(CACNA1H):c.2461C>G (p.Leu821Val) rs777617840 0.00004
NM_021098.3(CACNA1H):c.4736G>A (p.Arg1579Gln) rs367947771 0.00004
NM_021098.3(CACNA1H):c.5162G>A (p.Arg1721His) rs747789914 0.00004
NM_021098.3(CACNA1H):c.5378A>G (p.Asn1793Ser) rs72552051 0.00004
NM_021098.3(CACNA1H):c.1799C>T (p.Ala600Val) rs759349379 0.00003
NM_021098.3(CACNA1H):c.940C>T (p.Pro314Ser) rs200943355 0.00003
NM_021098.3(CACNA1H):c.960G>A (p.Glu320=) rs779012601 0.00003
NM_021098.3(CACNA1H):c.2907+10G>A rs781264742 0.00002
NM_021098.3(CACNA1H):c.3800G>A (p.Arg1267Gln) rs557125328 0.00002
NM_021098.3(CACNA1H):c.4701G>A (p.Ala1567=) rs375199752 0.00002
NM_021098.3(CACNA1H):c.1624G>A (p.Glu542Lys) rs761025927 0.00001
NM_021098.3(CACNA1H):c.1663G>A (p.Ala555Thr) rs1056058034 0.00001
NM_021098.3(CACNA1H):c.1996G>A (p.Glu666Lys) rs772141645 0.00001
NM_021098.3(CACNA1H):c.2192C>T (p.Thr731Met) rs779476529 0.00001
NM_021098.3(CACNA1H):c.2395A>G (p.Ile799Val) rs1216897674 0.00001
NM_021098.3(CACNA1H):c.3698A>T (p.Asp1233Val) rs774604155 0.00001
NM_021098.3(CACNA1H):c.4156G>A (p.Ala1386Thr) rs766694151 0.00001
NM_021098.3(CACNA1H):c.6371C>T (p.Pro2124Leu) rs372453886 0.00001
NM_021098.3(CACNA1H):c.86C>T (p.Ser29Phe) rs1443348691 0.00001
NM_021098.3(CACNA1H):c.992G>A (p.Gly331Asp) rs747326278 0.00001
NM_021098.3(CACNA1H):c.1017C>G (p.Asn339Lys) rs753307543
NM_021098.3(CACNA1H):c.1662C>G (p.Gly554=) rs755913742
NM_021098.3(CACNA1H):c.1754del (p.Pro585fs) rs2141260547
NM_021098.3(CACNA1H):c.1966C>T (p.Pro656Ser) rs59079584
NM_021098.3(CACNA1H):c.1973AGA[1] (p.Lys659del) rs753052647
NM_021098.3(CACNA1H):c.2061C>T (p.Ser687=) rs554718345
NM_021098.3(CACNA1H):c.2544C>A (p.Gly848=) rs28365123
NM_021098.3(CACNA1H):c.2547T>C (p.Pro849=) rs1242284062
NM_021098.3(CACNA1H):c.3154+5G>C rs764360814
NM_021098.3(CACNA1H):c.3331G>C (p.Gly1111Arg) rs59529743
NM_021098.3(CACNA1H):c.3852C>A (p.Arg1284=) rs374262237
NM_021098.3(CACNA1H):c.4039-10C>A rs764056510
NM_021098.3(CACNA1H):c.412-5C>G rs577701046
NM_021098.3(CACNA1H):c.4223+8dup rs545116263
NM_021098.3(CACNA1H):c.442G>A (p.Ala148Thr) rs1966873069
NM_021098.3(CACNA1H):c.4929+8C>T rs59027578
NM_021098.3(CACNA1H):c.5638A>T (p.Ile1880Phe) rs369689966
NM_021098.3(CACNA1H):c.5675G>T (p.Arg1892Leu) rs58667649
NM_021098.3(CACNA1H):c.637G>T (p.Val213Leu) rs772154386
NM_021098.3(CACNA1H):c.750G>C (p.Gln250His) rs1414057702

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