ClinVar Miner

List of variants in gene CACNA1A reported by PreventionGenetics, part of Exact Sciences

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Total variants: 146
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HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.6657T>C (p.His2219=) rs16051 0.67380
NM_001127222.2(CACNA1A):c.2173-12C>T rs16018 0.66161
NM_001127222.2(CACNA1A):c.1182G>A (p.Glu394=) rs2248069 0.64010
NM_001127222.2(CACNA1A):c.3861T>C (p.Phe1287=) rs16030 0.17482
NM_001127222.2(CACNA1A):c.5401-14C>T rs16042 0.16269
NM_001127222.2(CACNA1A):c.3057G>A (p.Arg1019=) rs16025 0.14118
NM_001127222.2(CACNA1A):c.2975A>T (p.Glu992Val) rs16023 0.13336
NM_001127222.2(CACNA1A):c.2091G>A (p.Thr697=) rs16016 0.11927
NM_001127222.2(CACNA1A):c.2751G>C (p.Glu917Asp) rs16022 0.11855
NM_001127222.2(CACNA1A):c.3310G>A (p.Gly1104Ser) rs16027 0.07737
NM_001127222.2(CACNA1A):c.6837G>A (p.Pro2279=) rs147221323 0.03348
NM_001127222.2(CACNA1A):c.5739C>T (p.Ala1913=) rs16044 0.01420
NM_001127222.2(CACNA1A):c.1776C>G (p.Val592=) rs16012 0.01217
NM_001127222.2(CACNA1A):c.579G>A (p.Thr193=) rs41276894 0.01215
NM_001127222.2(CACNA1A):c.6126G>A (p.Thr2042=) rs7249722 0.00766
NM_001127222.2(CACNA1A):c.7431C>T (p.Tyr2477=) rs16059 0.00712
NM_001127222.2(CACNA1A):c.2737C>T (p.Pro913Ser) rs16020 0.00616
NM_001127222.2(CACNA1A):c.1357G>A (p.Ala453Thr) rs41276886 0.00451
NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys) rs16024 0.00390
NM_001127222.2(CACNA1A):c.1345+7C>T rs192536793 0.00213
NM_001127222.2(CACNA1A):c.4632C>T (p.Thr1544=) rs150378053 0.00188
NM_001127222.2(CACNA1A):c.3457C>G (p.Gln1153Glu) rs201612257 0.00145
NM_001127222.2(CACNA1A):c.1623G>A (p.Gly541=) rs375628894 0.00131
NM_001127222.2(CACNA1A):c.1518T>C (p.Val506=) rs16009 0.00114
NM_001127222.2(CACNA1A):c.1914-4G>A rs191026552 0.00108
NM_001127222.2(CACNA1A):c.2687C>G (p.Pro896Arg) rs121908242 0.00091
NM_001127222.2(CACNA1A):c.5650G>A (p.Val1884Ile) rs201836062 0.00070
NM_001127222.2(CACNA1A):c.6974_6976dup (p.Gln2325_Ala2326insGlu) rs772835259 0.00060
NM_001127222.2(CACNA1A):c.3409C>G (p.Pro1137Ala) rs199793367 0.00057
NM_001127222.2(CACNA1A):c.5732-6T>C rs16043 0.00041
NM_001127222.2(CACNA1A):c.978+9T>C rs111366222 0.00041
NM_001127222.2(CACNA1A):c.4926C>T (p.Thr1642=) rs16036 0.00031
NM_001127222.2(CACNA1A):c.7274G>A (p.Gly2425Asp) rs555362569 0.00029
NM_001127222.2(CACNA1A):c.3227C>T (p.Ala1076Val) rs199512932 0.00024
NM_001127222.2(CACNA1A):c.7291G>A (p.Ala2431Thr) rs1052515747 0.00024
NM_001127222.2(CACNA1A):c.4311G>A (p.Lys1437=) rs572036869 0.00023
NM_001127222.2(CACNA1A):c.6505C>T (p.Arg2169Cys) rs375354077 0.00022
NM_001127222.2(CACNA1A):c.1781+7C>A rs202005119 0.00019
NM_001127222.2(CACNA1A):c.2955G>C (p.Pro985=) rs749357610 0.00019
NM_001127222.2(CACNA1A):c.1983T>C (p.Phe661=) rs368033271 0.00016
NM_001127222.2(CACNA1A):c.4410C>T (p.Asp1470=) rs374555263 0.00016
NM_001127222.2(CACNA1A):c.6084G>A (p.Pro2028=) rs374954726 0.00014
NM_001127222.2(CACNA1A):c.796G>A (p.Gly266Ser) rs17846908 0.00014
NM_001127222.2(CACNA1A):c.4388+8G>A rs376248243 0.00013
NM_001127222.2(CACNA1A):c.3618A>G (p.Glu1206=) rs201236364 0.00012
NM_001127222.2(CACNA1A):c.1782-6C>T rs201350764 0.00011
NM_001127222.2(CACNA1A):c.3701G>A (p.Arg1234His) rs373183625 0.00009
NM_001127222.2(CACNA1A):c.6782G>A (p.Gly2261Asp) rs751364653 0.00009
NM_001127222.2(CACNA1A):c.1368C>T (p.Ser456=) rs377458008 0.00008
NM_001127222.2(CACNA1A):c.2010C>T (p.Asn670=) rs779250946 0.00008
NM_001127222.2(CACNA1A):c.1593C>T (p.Ser531=) rs372090886 0.00006
NM_001127222.2(CACNA1A):c.2676C>T (p.Ser892=) rs780515850 0.00006
NM_001127222.2(CACNA1A):c.294-6C>T rs764502828 0.00006
NM_001127222.2(CACNA1A):c.633T>C (p.Ser211=) rs202216404 0.00005
NM_001127222.2(CACNA1A):c.2692G>A (p.Gly898Ser) rs751726770 0.00004
NM_001127222.2(CACNA1A):c.3622G>A (p.Asp1208Asn) rs750231498 0.00004
NM_001127222.2(CACNA1A):c.3684G>A (p.Thr1228=) rs368048030 0.00004
NM_001127222.2(CACNA1A):c.539+10G>A rs375079448 0.00004
NM_001127222.2(CACNA1A):c.1990C>T (p.Leu664=) rs1246140836 0.00003
NM_001127222.2(CACNA1A):c.3210C>T (p.Asn1070=) rs369927027 0.00003
NM_001127222.2(CACNA1A):c.5853C>T (p.Thr1951=) rs534218994 0.00003
NM_001127222.2(CACNA1A):c.6125C>T (p.Thr2042Met) rs563345694 0.00003
NM_001127222.2(CACNA1A):c.6448C>T (p.Arg2150Trp) rs756780624 0.00003
NM_001127222.2(CACNA1A):c.1356C>T (p.Phe452=) rs41276888 0.00002
NM_001127222.2(CACNA1A):c.285C>T (p.Thr95=) rs758206206 0.00002
NM_001127222.2(CACNA1A):c.3228G>A (p.Ala1076=) rs373678395 0.00002
NM_001127222.2(CACNA1A):c.3264C>T (p.Ala1088=) rs916089734 0.00002
NM_001127222.2(CACNA1A):c.4251-4G>A rs201785699 0.00002
NM_001127222.2(CACNA1A):c.4591-4G>A rs370348070 0.00002
NM_001127222.2(CACNA1A):c.6472C>T (p.Arg2158Cys) rs774289573 0.00002
NM_001127222.2(CACNA1A):c.6482G>A (p.Arg2161His) rs769503871 0.00002
NM_001127222.2(CACNA1A):c.1692G>A (p.Glu564=) rs371827685 0.00001
NM_001127222.2(CACNA1A):c.1875C>T (p.Val625=) rs774629539 0.00001
NM_001127222.2(CACNA1A):c.1899A>G (p.Gln633=) rs769887736 0.00001
NM_001127222.2(CACNA1A):c.1913+8C>T rs770833278 0.00001
NM_001127222.2(CACNA1A):c.3246C>T (p.His1082=) rs556541935 0.00001
NM_001127222.2(CACNA1A):c.3304G>A (p.Asp1102Asn) rs372823282 0.00001
NM_001127222.2(CACNA1A):c.367G>A (p.Asp123Asn) rs753467037 0.00001
NM_001127222.2(CACNA1A):c.4516G>T (p.Val1506Leu) rs1322080885 0.00001
NM_001127222.2(CACNA1A):c.5706A>G (p.Thr1902=) rs1434572084 0.00001
NM_001127222.2(CACNA1A):c.5839+10G>A rs371733571 0.00001
NM_001127222.2(CACNA1A):c.6435C>T (p.Pro2145=) rs1456597171 0.00001
NM_001127222.2(CACNA1A):c.6526+6C>T rs1366998583 0.00001
NM_001127222.2(CACNA1A):c.6532G>A (p.Gly2178Arg) rs953871050 0.00001
NM_001127222.2(CACNA1A):c.864G>A (p.Gln288=) rs770448965 0.00001
NM_001127222.2(CACNA1A):c.1362A>T (p.Arg454=)
NM_001127222.2(CACNA1A):c.1668+7G>A rs567507041
NM_001127222.2(CACNA1A):c.2039_2040del (p.Gln680fs) rs1064794262
NM_001127222.2(CACNA1A):c.2270_2273dup (p.Ala759fs)
NM_001127222.2(CACNA1A):c.2495ACA[2] (p.Asn834del) rs750962335
NM_001127222.2(CACNA1A):c.2582_2599del (p.Gln861_Asp866del) rs767951499
NM_001127222.2(CACNA1A):c.264A>C (p.Arg88Ser)
NM_001127222.2(CACNA1A):c.2695C>T (p.Arg899Cys)
NM_001127222.2(CACNA1A):c.271G>C (p.Ala91Pro)
NM_001127222.2(CACNA1A):c.2739C>T (p.Pro913=) rs16021
NM_001127222.2(CACNA1A):c.2883C>T (p.His961=)
NM_001127222.2(CACNA1A):c.2892C>T (p.Pro964=) rs771351347
NM_001127222.2(CACNA1A):c.2968GAGGGC[2] (p.990EG[2]) rs764399373
NM_001127222.2(CACNA1A):c.2968GAGGGC[4] (p.990EG[4]) rs764399373
NM_001127222.2(CACNA1A):c.3148A>G (p.Ile1050Val)
NM_001127222.2(CACNA1A):c.3265G>T (p.Gly1089Cys) rs201311000
NM_001127222.2(CACNA1A):c.3411del (p.Lys1138fs) rs746790849
NM_001127222.2(CACNA1A):c.3525A>C (p.Pro1175=) rs886044439
NM_001127222.2(CACNA1A):c.3531C>G (p.Pro1177=) rs184723350
NM_001127222.2(CACNA1A):c.3609G>A (p.Glu1203=) rs529584159
NM_001127222.2(CACNA1A):c.362dup (p.Pro122fs)
NM_001127222.2(CACNA1A):c.3765G>A (p.Met1255Ile) rs2144871559
NM_001127222.2(CACNA1A):c.3789G>A (p.Glu1263=)
NM_001127222.2(CACNA1A):c.4089+5_4089+6del rs368911651
NM_001127222.2(CACNA1A):c.4340G>C (p.Trp1447Ser)
NM_001127222.2(CACNA1A):c.4470C>A (p.Tyr1490Ter)
NM_001127222.2(CACNA1A):c.4710G>T (p.Thr1570=) rs761547761
NM_001127222.2(CACNA1A):c.4827T>G (p.Ser1609=)
NM_001127222.2(CACNA1A):c.5205C>T (p.His1735=) rs1057523955
NM_001127222.2(CACNA1A):c.5406G>A (p.Leu1802=)
NM_001127222.2(CACNA1A):c.5515G>T (p.Asp1839Tyr)
NM_001127222.2(CACNA1A):c.5529-1231C>T rs1296262946
NM_001127222.2(CACNA1A):c.5685C>T (p.Thr1895=) rs757291476
NM_001127222.2(CACNA1A):c.5702G>A (p.Arg1901His) rs2144595024
NM_001127222.2(CACNA1A):c.5749C>A (p.Gln1917Lys)
NM_001127222.2(CACNA1A):c.5780_5783dup (p.Ile1929fs)
NM_001127222.2(CACNA1A):c.6025A>C (p.Thr2009Pro)
NM_001127222.2(CACNA1A):c.6466C>T (p.Arg2156Cys) rs554393704
NM_001127222.2(CACNA1A):c.6592G>C (p.Glu2198Gln)
NM_001127222.2(CACNA1A):c.6630CCA[6] (p.His2217_His2219del) rs759331923
NM_001127222.2(CACNA1A):c.6630CCA[8] (p.His2219del) rs759331923
NM_001127222.2(CACNA1A):c.6643C>T (p.His2215Tyr)
NM_001127222.2(CACNA1A):c.6650_6658del (p.His2217_His2219del) rs776181081
NM_001127222.2(CACNA1A):c.6656_6658del (p.His2219del) rs749638821
NM_001127222.2(CACNA1A):c.6657delinsCCACCAC (p.His2218_His2219dup) rs1057518615
NM_001127222.2(CACNA1A):c.6658_6659insACC (p.His2219dup) rs768950814
NM_001127222.2(CACNA1A):c.6664C>T (p.Pro2222Ser)
NM_001127222.2(CACNA1A):c.6696G>T (p.Arg2232=)
NM_001127222.2(CACNA1A):c.6697C>T (p.Pro2233Ser)
NM_001127222.2(CACNA1A):c.6831C>G (p.Ser2277Arg)
NM_001127222.2(CACNA1A):c.7126C>T (p.Arg2376Trp)
NM_001127222.2(CACNA1A):c.7240G>A (p.Asp2414Asn) rs1568416040
NM_001127222.2(CACNA1A):c.7251G>A (p.Glu2417=)
NM_001127222.2(CACNA1A):c.7257T>C (p.Asp2419=)
NM_001127222.2(CACNA1A):c.7263G>A (p.Pro2421=)
NM_001127222.2(CACNA1A):c.7266_7271del (p.Ser2423_Gly2424del) rs775428832
NM_001127222.2(CACNA1A):c.7293C>A (p.Ala2431=)
NM_001127222.2(CACNA1A):c.7310C>A (p.Pro2437Gln)
NM_001127222.2(CACNA1A):c.7440C>T (p.His2480=)
NM_001127222.2(CACNA1A):c.880C>T (p.Pro294Ser)
NM_001127222.2(CACNA1A):c.978+1G>A

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