ClinVar Miner

List of variants in gene CACNA1H reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 247
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HGVS dbSNP gnomAD frequency
NM_021098.3(CACNA1H):c.4039-4G>A rs57315342 0.00287
NM_021098.3(CACNA1H):c.6622G>A (p.Ala2208Thr) rs60445853 0.00223
NM_021098.3(CACNA1H):c.4420C>T (p.Arg1474Trp) rs57105517 0.00209
NM_021098.3(CACNA1H):c.2626G>A (p.Ala876Thr) rs58173258 0.00169
NM_021098.3(CACNA1H):c.6848A>T (p.Asp2283Val) rs58597457 0.00137
NM_021098.3(CACNA1H):c.3792G>T (p.Gln1264His) rs200228767 0.00068
NM_021098.3(CACNA1H):c.180G>C (p.Ala60=) rs749735503 0.00049
NM_021098.3(CACNA1H):c.1853C>T (p.Pro618Leu) rs60734921 0.00046
NM_021098.3(CACNA1H):c.1844C>T (p.Thr615Met) rs368976749 0.00032
NM_021098.3(CACNA1H):c.2264G>A (p.Gly755Asp) rs142306293 0.00032
NM_021098.3(CACNA1H):c.3555G>A (p.Ala1185=) rs370039255 0.00032
NM_021098.3(CACNA1H):c.1778_1789del (p.His593_Thr597delinsPro) rs768475346 0.00030
NM_021098.3(CACNA1H):c.4488G>A (p.Ser1496=) rs377112179 0.00029
NM_021098.3(CACNA1H):c.1310G>A (p.Arg437Gln) rs59461207 0.00027
NM_021098.3(CACNA1H):c.1754C>T (p.Pro585Leu) rs372367313 0.00024
NM_021098.3(CACNA1H):c.379G>T (p.Glu127Ter) rs761719764 0.00023
NM_021098.3(CACNA1H):c.6741G>A (p.Lys2247=) rs373830807 0.00021
NM_021098.3(CACNA1H):c.926G>A (p.Arg309His) rs201651793 0.00021
NM_021098.3(CACNA1H):c.2069C>T (p.Ala690Val) rs61018135 0.00020
NM_021098.3(CACNA1H):c.2540G>T (p.Cys847Phe) rs202019417 0.00019
NM_021098.3(CACNA1H):c.1429C>T (p.Arg477Cys) rs376935647 0.00018
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.5809G>A (p.Val1937Met) rs60040113 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.3988G>A (p.Val1330Ile) rs28365125 0.00010
NM_021098.3(CACNA1H):c.1673C>T (p.Ser558Leu) rs771714007 0.00009
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.5346C>T (p.Cys1782=) rs375518094 0.00008
NM_021098.3(CACNA1H):c.4579C>T (p.His1527Tyr) rs374265107 0.00007
NM_021098.3(CACNA1H):c.5512G>A (p.Val1838Ile) rs575909585 0.00007
NM_021098.3(CACNA1H):c.6817C>T (p.Leu2273Phe) rs201577113 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.3554C>T (p.Ala1185Val) rs769568324 0.00006
NM_021098.3(CACNA1H):c.4045G>A (p.Ala1349Thr) rs200400235 0.00006
NM_021098.3(CACNA1H):c.4426G>A (p.Ala1476Thr) rs374297889 0.00006
NM_021098.3(CACNA1H):c.5519T>G (p.Phe1840Cys) rs755405205 0.00006
NM_021098.3(CACNA1H):c.5925C>G (p.Ser1975=) rs765457704 0.00006
NM_021098.3(CACNA1H):c.3449G>A (p.Arg1150His) rs373762102 0.00005
NM_021098.3(CACNA1H):c.6578C>T (p.Ser2193Leu) rs748432349 0.00005
NM_021098.3(CACNA1H):c.1985A>G (p.His662Arg) rs768565046 0.00004
NM_021098.3(CACNA1H):c.2455G>A (p.Glu819Lys) rs375165169 0.00004
NM_021098.3(CACNA1H):c.2461C>G (p.Leu821Val) rs777617840 0.00004
NM_021098.3(CACNA1H):c.3730G>A (p.Asp1244Asn) rs372126787 0.00004
NM_021098.3(CACNA1H):c.3744C>T (p.Asp1248=) rs747200195 0.00004
NM_021098.3(CACNA1H):c.3845G>A (p.Arg1282Gln) rs764530568 0.00004
NM_021098.3(CACNA1H):c.412G>A (p.Ala138Thr) rs931243903 0.00004
NM_021098.3(CACNA1H):c.4651G>A (p.Val1551Met) rs369045626 0.00004
NM_021098.3(CACNA1H):c.4736G>A (p.Arg1579Gln) rs367947771 0.00004
NM_021098.3(CACNA1H):c.5083G>A (p.Gly1695Ser) rs946594196 0.00004
NM_021098.3(CACNA1H):c.5162G>A (p.Arg1721His) rs747789914 0.00004
NM_021098.3(CACNA1H):c.6678G>A (p.Thr2226=) rs398124369 0.00004
NM_021098.3(CACNA1H):c.908C>T (p.Ser303Leu) rs867008505 0.00004
NM_021098.3(CACNA1H):c.1799C>T (p.Ala600Val) rs759349379 0.00003
NM_021098.3(CACNA1H):c.1993G>A (p.Gly665Arg) rs761785619 0.00003
NM_021098.3(CACNA1H):c.2399T>C (p.Met800Thr) rs747121461 0.00003
NM_021098.3(CACNA1H):c.2650C>T (p.Arg884Cys) rs762653776 0.00003
NM_021098.3(CACNA1H):c.2662C>A (p.Leu888Met) rs868696475 0.00003
NM_021098.3(CACNA1H):c.2716G>A (p.Val906Met) rs536557648 0.00003
NM_021098.3(CACNA1H):c.3469C>T (p.Arg1157Cys) rs1057523326 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.940C>T (p.Pro314Ser) rs200943355 0.00003
NM_021098.3(CACNA1H):c.1421G>A (p.Arg474His) rs769636919 0.00002
NM_021098.3(CACNA1H):c.2071G>A (p.Gly691Ser) rs377664706 0.00002
NM_021098.3(CACNA1H):c.2177G>T (p.Gly726Val) rs1433384279 0.00002
NM_021098.3(CACNA1H):c.3646G>A (p.Asp1216Asn) rs754581272 0.00002
NM_021098.3(CACNA1H):c.3800G>A (p.Arg1267Gln) rs557125328 0.00002
NM_021098.3(CACNA1H):c.3952A>G (p.Ile1318Val) rs775456399 0.00002
NM_021098.3(CACNA1H):c.6382G>A (p.Gly2128Ser) rs748564400 0.00002
NM_021098.3(CACNA1H):c.6544C>T (p.Arg2182Cys) rs1244507563 0.00002
NM_021098.3(CACNA1H):c.6617C>T (p.Pro2206Leu) rs754398374 0.00002
NM_021098.3(CACNA1H):c.830C>T (p.Pro277Leu) rs372848579 0.00002
NM_021098.3(CACNA1H):c.1025A>G (p.Gln342Arg) rs1171167857 0.00001
NM_021098.3(CACNA1H):c.1093G>T (p.Gly365Cys) rs757422637 0.00001
NM_021098.3(CACNA1H):c.1127C>T (p.Thr376Met) rs758285252 0.00001
NM_021098.3(CACNA1H):c.1171C>T (p.His391Tyr) rs1401713017 0.00001
NM_021098.3(CACNA1H):c.1607C>T (p.Pro536Leu) rs1481524583 0.00001
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.2389C>T (p.Arg797Cys) rs183042575 0.00001
NM_021098.3(CACNA1H):c.2395A>G (p.Ile799Val) rs1216897674 0.00001
NM_021098.3(CACNA1H):c.2497A>G (p.Thr833Ala) rs1051410307 0.00001
NM_021098.3(CACNA1H):c.2537C>T (p.Ala846Val) rs779724136 0.00001
NM_021098.3(CACNA1H):c.2708G>A (p.Arg903His) rs1057520721 0.00001
NM_021098.3(CACNA1H):c.3019T>C (p.Phe1007Leu) rs764517695 0.00001
NM_021098.3(CACNA1H):c.3241G>A (p.Ala1081Thr) rs1330404120 0.00001
NM_021098.3(CACNA1H):c.3470G>A (p.Arg1157His) rs772040768 0.00001
NM_021098.3(CACNA1H):c.3744+1G>A rs770718464 0.00001
NM_021098.3(CACNA1H):c.3901C>T (p.Leu1301Phe) rs1969297546 0.00001
NM_021098.3(CACNA1H):c.4089C>G (p.Ser1363Arg) rs867556563 0.00001
NM_021098.3(CACNA1H):c.4145C>T (p.Ala1382Val) rs566220434 0.00001
NM_021098.3(CACNA1H):c.4156G>A (p.Ala1386Thr) rs766694151 0.00001
NM_021098.3(CACNA1H):c.4195C>T (p.Arg1399Cys) rs374596109 0.00001
NM_021098.3(CACNA1H):c.4423G>C (p.Ala1475Pro) rs1344413563 0.00001
NM_021098.3(CACNA1H):c.4586C>T (p.Pro1529Leu) rs1057522839 0.00001
NM_021098.3(CACNA1H):c.4711C>T (p.Arg1571Trp) rs58725680 0.00001
NM_021098.3(CACNA1H):c.4760-5T>A rs1474686670 0.00001
NM_021098.3(CACNA1H):c.4929+5G>A rs1054400971 0.00001
NM_021098.3(CACNA1H):c.5677C>T (p.Arg1893Trp) rs899082537 0.00001
NM_021098.3(CACNA1H):c.5696C>T (p.Pro1899Leu) rs750475467 0.00001
NM_021098.3(CACNA1H):c.5791A>T (p.Ser1931Cys) rs777593105 0.00001
NM_021098.3(CACNA1H):c.5905C>T (p.His1969Tyr) rs773386277 0.00001
NM_021098.3(CACNA1H):c.6530C>T (p.Pro2177Leu) rs774592173 0.00001
NM_021098.3(CACNA1H):c.829C>T (p.Pro277Ser) rs201911360 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
GRCh37/hg19 16p13.3(chr16:1162715-1236516)x1
NM_021098.3(CACNA1H):c.1016A>G (p.Asn339Ser)
NM_021098.3(CACNA1H):c.1017C>G (p.Asn339Lys) rs753307543
NM_021098.3(CACNA1H):c.1142T>G (p.Val381Gly) rs932024389
NM_021098.3(CACNA1H):c.1179C>G (p.Phe393Leu)
NM_021098.3(CACNA1H):c.1220C>T (p.Ser407Phe) rs1326944134
NM_021098.3(CACNA1H):c.1222T>C (p.Phe408Leu)
NM_021098.3(CACNA1H):c.1226T>A (p.Phe409Tyr) rs1596407952
NM_021098.3(CACNA1H):c.1241G>A (p.Cys414Tyr) rs781525428
NM_021098.3(CACNA1H):c.1274C>T (p.Thr425Met) rs370007023
NM_021098.3(CACNA1H):c.1328A>G (p.Asn443Ser) rs771750212
NM_021098.3(CACNA1H):c.1364G>A (p.Ser455Asn) rs1041969243
NM_021098.3(CACNA1H):c.1393G>A (p.Gly465Ser)
NM_021098.3(CACNA1H):c.1396C>T (p.His466Tyr)
NM_021098.3(CACNA1H):c.1462A>G (p.Lys488Glu)
NM_021098.3(CACNA1H):c.1565A>G (p.His522Arg) rs1967991363
NM_021098.3(CACNA1H):c.1609_1617del (p.Arg537_Pro539del) rs2141258642
NM_021098.3(CACNA1H):c.172C>G (p.Arg58Gly)
NM_021098.3(CACNA1H):c.1754del (p.Pro585fs) rs2141260547
NM_021098.3(CACNA1H):c.1783_1788del (p.Ala595_Ala596del) rs762960317
NM_021098.3(CACNA1H):c.1840C>A (p.Pro614Thr)
NM_021098.3(CACNA1H):c.1856C>G (p.Ser619Ter) rs1272295205
NM_021098.3(CACNA1H):c.1934_1935delinsT (p.Gly645fs)
NM_021098.3(CACNA1H):c.1956C>G (p.Asn652Lys)
NM_021098.3(CACNA1H):c.1969T>C (p.Tyr657His)
NM_021098.3(CACNA1H):c.1973AGA[1] (p.Lys659del) rs753052647
NM_021098.3(CACNA1H):c.1988T>C (p.Val663Ala) rs1401991327
NM_021098.3(CACNA1H):c.1997A>T (p.Glu666Val) rs926633519
NM_021098.3(CACNA1H):c.2017C>T (p.Pro673Ser) rs1057520145
NM_021098.3(CACNA1H):c.2041G>T (p.Val681Leu) rs1347965086
NM_021098.3(CACNA1H):c.2051C>A (p.Pro684His) rs767983680
NM_021098.3(CACNA1H):c.2054T>C (p.Leu685Pro) rs2141277907
NM_021098.3(CACNA1H):c.2063C>T (p.Pro688Leu) rs2141277985
NM_021098.3(CACNA1H):c.2146G>T (p.Gly716Cys) rs187225648
NM_021098.3(CACNA1H):c.2209_2286delinsAGCAGA (p.Gly737_Arg761delinsSer) rs1555513044
NM_021098.3(CACNA1H):c.2254CCAGGC[2] (p.752PG[2]) rs756747669
NM_021098.3(CACNA1H):c.226G>A (p.Ala76Thr) rs1555498216
NM_021098.3(CACNA1H):c.233C>A (p.Thr78Lys) rs1473122688
NM_021098.3(CACNA1H):c.2371G>T (p.Asp791Tyr) rs2141281388
NM_021098.3(CACNA1H):c.2405C>G (p.Ala802Gly) rs781441262
NM_021098.3(CACNA1H):c.2420C>A (p.Thr807Lys)
NM_021098.3(CACNA1H):c.2426G>A (p.Ser809Asn) rs2141281981
NM_021098.3(CACNA1H):c.2462T>C (p.Leu821Pro) rs2141288117
NM_021098.3(CACNA1H):c.2465C>G (p.Thr822Ser) rs369356684
NM_021098.3(CACNA1H):c.2474T>G (p.Leu825Arg)
NM_021098.3(CACNA1H):c.2573A>T (p.Asn858Ile) rs1387448449
NM_021098.3(CACNA1H):c.2780T>C (p.Phe927Ser) rs2141298140
NM_021098.3(CACNA1H):c.2876C>T (p.Ser959Phe) rs1390579046
NM_021098.3(CACNA1H):c.3004G>A (p.Gly1002Ser) rs2141308474
NM_021098.3(CACNA1H):c.3004G>C (p.Gly1002Arg)
NM_021098.3(CACNA1H):c.3086C>G (p.Thr1029Arg)
NM_021098.3(CACNA1H):c.3090C>A (p.Asp1030Glu)
NM_021098.3(CACNA1H):c.3154+5G>C rs764360814
NM_021098.3(CACNA1H):c.31G>C (p.Val11Leu)
NM_021098.3(CACNA1H):c.3281T>C (p.Leu1094Pro)
NM_021098.3(CACNA1H):c.3331G>C (p.Gly1111Arg) rs59529743
NM_021098.3(CACNA1H):c.3343C>G (p.Leu1115Val)
NM_021098.3(CACNA1H):c.3352C>A (p.Gln1118Lys) rs1215469090
NM_021098.3(CACNA1H):c.3362C>G (p.Pro1121Arg) rs200832286
NM_021098.3(CACNA1H):c.3422_3442dup (p.Arg1141_Ser1147dup) rs746597383
NM_021098.3(CACNA1H):c.3454C>G (p.Pro1152Ala) rs2141326397
NM_021098.3(CACNA1H):c.3477G>C (p.Gln1159His)
NM_021098.3(CACNA1H):c.3536C>G (p.Ala1179Gly)
NM_021098.3(CACNA1H):c.3598G>A (p.Asp1200Asn)
NM_021098.3(CACNA1H):c.3655G>A (p.Gly1219Arg) rs746322724
NM_021098.3(CACNA1H):c.3757C>T (p.Arg1253Cys) rs372000875
NM_021098.3(CACNA1H):c.382T>G (p.Cys128Gly) rs1057523118
NM_021098.3(CACNA1H):c.3836C>T (p.Pro1279Leu)
NM_021098.3(CACNA1H):c.384C>G (p.Cys128Trp)
NM_021098.3(CACNA1H):c.4028T>C (p.Met1343Thr) rs1377984024
NM_021098.3(CACNA1H):c.4039-10C>A rs764056510
NM_021098.3(CACNA1H):c.412-5C>G rs577701046
NM_021098.3(CACNA1H):c.4148T>C (p.Met1383Thr)
NM_021098.3(CACNA1H):c.4369T>C (p.Tyr1457His)
NM_021098.3(CACNA1H):c.4390A>T (p.Thr1464Ser) rs1969448609
NM_021098.3(CACNA1H):c.442G>A (p.Ala148Thr) rs1966873069
NM_021098.3(CACNA1H):c.4484T>A (p.Met1495Lys) rs1131691843
NM_021098.3(CACNA1H):c.4485G>A (p.Met1495Ile) rs2141350000
NM_021098.3(CACNA1H):c.4525A>C (p.Ile1509Leu)
NM_021098.3(CACNA1H):c.4528_4536delinsCTT (p.Met1510_Asp1512delinsLeu)
NM_021098.3(CACNA1H):c.4586C>G (p.Pro1529Arg)
NM_021098.3(CACNA1H):c.4632C>A (p.Phe1544Leu) rs775010247
NM_021098.3(CACNA1H):c.4651G>T (p.Val1551Leu) rs369045626
NM_021098.3(CACNA1H):c.4707G>C (p.Glu1569Asp)
NM_021098.3(CACNA1H):c.4742T>G (p.Leu1581Arg) rs763158238
NM_021098.3(CACNA1H):c.4780_4781delinsTT (p.Ala1594Phe) rs1555518356
NM_021098.3(CACNA1H):c.4789C>G (p.Arg1597Gly)
NM_021098.3(CACNA1H):c.4799A>G (p.Tyr1600Cys) rs1969738079
NM_021098.3(CACNA1H):c.4842C>A (p.Cys1614Ter) rs1427804663
NM_021098.3(CACNA1H):c.4855C>T (p.Leu1619Phe) rs1064796794
NM_021098.3(CACNA1H):c.4922A>G (p.Gln1641Arg) rs1596466547
NM_021098.3(CACNA1H):c.4929+8C>A rs59027578
NM_021098.3(CACNA1H):c.5024G>T (p.Arg1675Leu)
NM_021098.3(CACNA1H):c.5080A>G (p.Met1694Val) rs2141376108
NM_021098.3(CACNA1H):c.5230C>G (p.Gln1744Glu) rs1435317657
NM_021098.3(CACNA1H):c.5249G>A (p.Gly1750Glu)
NM_021098.3(CACNA1H):c.5264T>C (p.Leu1755Pro)
NM_021098.3(CACNA1H):c.5270T>C (p.Met1757Thr)
NM_021098.3(CACNA1H):c.5282T>C (p.Phe1761Ser)
NM_021098.3(CACNA1H):c.5330G>T (p.Ser1777Ile) rs1439949443
NM_021098.3(CACNA1H):c.5408G>A (p.Arg1803His)
NM_021098.3(CACNA1H):c.546-2delinsCG
NM_021098.3(CACNA1H):c.5573T>C (p.Val1858Ala)
NM_021098.3(CACNA1H):c.5579T>C (p.Met1860Thr)
NM_021098.3(CACNA1H):c.5612G>T (p.Arg1871Leu) rs58124832
NM_021098.3(CACNA1H):c.5638A>T (p.Ile1880Phe) rs369689966
NM_021098.3(CACNA1H):c.5670T>A (p.Ser1890Arg) rs1555520259
NM_021098.3(CACNA1H):c.577G>A (p.Val193Met) rs778637721
NM_021098.3(CACNA1H):c.6209G>A (p.Arg2070His) rs777897759
NM_021098.3(CACNA1H):c.6299A>T (p.Glu2100Val) rs2141408068
NM_021098.3(CACNA1H):c.6300G>T (p.Glu2100Asp)
NM_021098.3(CACNA1H):c.637G>T (p.Val213Leu) rs772154386
NM_021098.3(CACNA1H):c.6380G>T (p.Gly2127Val) rs769490814
NM_021098.3(CACNA1H):c.6528G>T (p.Glu2176Asp)
NM_021098.3(CACNA1H):c.6547A>G (p.Arg2183Gly)
NM_021098.3(CACNA1H):c.6548G>A (p.Arg2183Lys)
NM_021098.3(CACNA1H):c.6570del (p.Cys2191fs) rs760298114
NM_021098.3(CACNA1H):c.6571T>C (p.Cys2191Arg) rs1970398720
NM_021098.3(CACNA1H):c.6578C>G (p.Ser2193Trp)
NM_021098.3(CACNA1H):c.6679C>T (p.Pro2227Ser)
NM_021098.3(CACNA1H):c.6713C>G (p.Ser2238Ter) rs774045741
NM_021098.3(CACNA1H):c.6721G>C (p.Gly2241Arg) rs200606995
NM_021098.3(CACNA1H):c.6726G>A (p.Gly2242=) rs58682447
NM_021098.3(CACNA1H):c.6727dup (p.Asp2243fs) rs753624103
NM_021098.3(CACNA1H):c.6851del (p.Gly2284fs)
NM_021098.3(CACNA1H):c.6995C>A (p.Pro2332His)
NM_021098.3(CACNA1H):c.6995C>T (p.Pro2332Leu) rs759417643
NM_021098.3(CACNA1H):c.703CTG[1] (p.Leu236del)
NM_021098.3(CACNA1H):c.742G>A (p.Gly248Ser) rs1967303599
NM_021098.3(CACNA1H):c.750G>C (p.Gln250His) rs1414057702
NM_021098.3(CACNA1H):c.859A>G (p.Asn287Asp) rs753361068
NM_021098.3(CACNA1H):c.877T>C (p.Ser293Pro) rs2141242222
NM_021098.3(CACNA1H):c.888C>A (p.Asp296Glu)
NM_021098.3(CACNA1H):c.952G>A (p.Gly318Ser) rs1555511075

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