ClinVar Miner

List of variants in gene CACNA1H reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 91
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HGVS dbSNP gnomAD frequency
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.3175G>T (p.Ala1059Ser) rs41292285 0.00715
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.5493C>T (p.Tyr1831=) rs60218977 0.00542
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.4314C>T (p.Cys1438=) rs60275734 0.00378
NM_021098.3(CACNA1H):c.2967C>T (p.Ser989=) rs59090452 0.00320
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.6418G>A (p.Ala2140Thr) rs59487037 0.00237
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.819C>T (p.Thr273=) rs72552033 0.00150
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.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.3362C>T (p.Pro1121Leu) rs200832286 0.00054
NM_021098.3(CACNA1H):c.180G>C (p.Ala60=) rs749735503 0.00049
NM_021098.3(CACNA1H):c.6198C>T (p.Ser2066=) rs375020212 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.1844C>T (p.Thr615Met) rs368976749 0.00032
NM_021098.3(CACNA1H):c.3555G>A (p.Ala1185=) rs370039255 0.00032
NM_021098.3(CACNA1H):c.4488G>A (p.Ser1496=) rs377112179 0.00029
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.6741G>A (p.Lys2247=) rs373830807 0.00021
NM_021098.3(CACNA1H):c.2604-5C>T rs191783113 0.00017
NM_021098.3(CACNA1H):c.6244C>T (p.Arg2082Trp) rs771719773 0.00016
NM_021098.3(CACNA1H):c.5832C>T (p.His1944=) rs372529098 0.00013
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.5346C>T (p.Cys1782=) rs375518094 0.00008
NM_021098.3(CACNA1H):c.5512G>A (p.Val1838Ile) rs575909585 0.00007
NM_021098.3(CACNA1H):c.1939G>A (p.Gly647Ser) rs147702970 0.00006
NM_021098.3(CACNA1H):c.2215C>T (p.Arg739Cys) rs371167728 0.00006
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.5925C>G (p.Ser1975=) rs765457704 0.00006
NM_021098.3(CACNA1H):c.3845G>A (p.Arg1282Gln) rs764530568 0.00004
NM_021098.3(CACNA1H):c.4365G>A (p.Lys1455=) rs373587418 0.00004
NM_021098.3(CACNA1H):c.1993G>A (p.Gly665Arg) rs761785619 0.00003
NM_021098.3(CACNA1H):c.2208C>T (p.His736=) rs376616017 0.00003
NM_021098.3(CACNA1H):c.2399T>C (p.Met800Thr) rs747121461 0.00003
NM_021098.3(CACNA1H):c.3339G>A (p.Pro1113=) rs368155283 0.00003
NM_021098.3(CACNA1H):c.3737C>T (p.Ser1246Leu) rs571145188 0.00003
NM_021098.3(CACNA1H):c.4065C>T (p.Gly1355=) rs771718484 0.00003
NM_021098.3(CACNA1H):c.6713C>T (p.Ser2238Leu) rs774045741 0.00003
NM_021098.3(CACNA1H):c.2177G>T (p.Gly726Val) rs1433384279 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.1607C>T (p.Pro536Leu) rs1481524583 0.00001
NM_021098.3(CACNA1H):c.1980C>A (p.Ile660=) rs769960413 0.00001
NM_021098.3(CACNA1H):c.2230C>T (p.Arg744Ter) rs1437449624 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.1092C>T (p.Ile364=)
NM_021098.3(CACNA1H):c.1226T>A (p.Phe409Tyr) rs1596407952
NM_021098.3(CACNA1H):c.1605C>T (p.Ser535=)
NM_021098.3(CACNA1H):c.2153A>C (p.Glu718Ala) rs538923520
NM_021098.3(CACNA1H):c.2254CCAGGC[2] (p.752PG[2]) rs756747669
NM_021098.3(CACNA1H):c.2465C>G (p.Thr822Ser) rs369356684
NM_021098.3(CACNA1H):c.2985C>T (p.Phe995=) rs371675943
NM_021098.3(CACNA1H):c.306C>T (p.Phe102=)
NM_021098.3(CACNA1H):c.31G>C (p.Val11Leu)
NM_021098.3(CACNA1H):c.3270C>T (p.Ser1090=) rs201113434
NM_021098.3(CACNA1H):c.3352C>A (p.Gln1118Lys) rs1215469090
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.339C>T (p.Asn113=)
NM_021098.3(CACNA1H):c.3736T>C (p.Ser1246Pro) rs1969157452
NM_021098.3(CACNA1H):c.3936C>T (p.Ala1312=)
NM_021098.3(CACNA1H):c.4605C>T (p.Phe1535=)
NM_021098.3(CACNA1H):c.4632C>A (p.Phe1544Leu) rs775010247
NM_021098.3(CACNA1H):c.4929+8C>A rs59027578
NM_021098.3(CACNA1H):c.6726G>A (p.Gly2242=) rs58682447
NM_021098.3(CACNA1H):c.6995C>T (p.Pro2332Leu) rs759417643

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