ClinVar Miner

List of variants in gene CACNA1A reported as benign by GeneDx

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 223
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HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.632-111= rs1871470 0.99999
NM_001127222.2(CACNA1A):c.1987-98C>T rs4926263 0.99259
NM_001127222.2(CACNA1A):c.6526+137A>G rs10413221 0.98446
NM_001127222.2(CACNA1A):c.4950+96A>C rs16039 0.97758
NM_001127222.2(CACNA1A):c.4590+133A>G rs4926242 0.92310
NM_001127222.2(CACNA1A):c.6339+309T>G rs7253618 0.84841
NM_001127222.2(CACNA1A):c.4388+221C>A rs11085839 0.83673
NM_001127222.2(CACNA1A):c.5940+185G>A rs892017 0.83244
NM_001127222.2(CACNA1A):c.5940+229C>T rs892018 0.83236
NM_001127222.2(CACNA1A):c.5732-311G>A rs4926143 0.83041
NM_001127222.2(CACNA1A):c.1199-31A>G rs16008 0.81362
NM_001127222.2(CACNA1A):c.5941-205T>C rs2419233 0.76943
NM_001127222.2(CACNA1A):c.979-243A>G rs3816720 0.69106
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.1198+48G>A rs2306348 0.64420
NM_001127222.2(CACNA1A):c.1198+318G>A rs4926149 0.64397
NM_001127222.2(CACNA1A):c.1198+301G>C rs4926150 0.64040
NM_001127222.2(CACNA1A):c.1083-266C>T rs34296137 0.64014
NM_001127222.2(CACNA1A):c.1182G>A (p.Glu394=) rs2248069 0.64010
NM_001127222.2(CACNA1A):c.4867-71A>C rs16035 0.59301
NM_001127222.2(CACNA1A):c.5731+49C>T rs3816027 0.54210
NM_001127222.2(CACNA1A):c.4089+71T>C rs16031 0.53636
NM_001127222.2(CACNA1A):c.*147C>A rs7254351 0.47830
NM_001127222.2(CACNA1A):c.293+53G>A rs16003 0.45781
NM_001127222.2(CACNA1A):c.2280-68C>A rs12985136 0.45430
NM_001127222.2(CACNA1A):c.5249+209C>T rs11085837 0.41044
NM_001127222.2(CACNA1A):c.1556-289A>T rs10414027 0.34131
NM_001127222.2(CACNA1A):c.3692+156G>A rs10422305 0.32411
NM_001127222.2(CACNA1A):c.4867-301A>G rs2302080 0.29561
NM_001127222.2(CACNA1A):c.1555+183A>C rs2292035 0.29256
NM_001127222.2(CACNA1A):c.1555+121C>T rs2292037 0.29245
NM_001127222.2(CACNA1A):c.1555+162G>A rs2292036 0.29234
NM_001127222.2(CACNA1A):c.1556-93T>A rs10407951 0.29227
NM_001127222.2(CACNA1A):c.1555+259G>A rs2292034 0.29215
NM_001127222.2(CACNA1A):c.1083-104C>A rs79798415 0.26514
NM_001127222.2(CACNA1A):c.3090-165A>G rs12975522 0.26101
NM_001127222.2(CACNA1A):c.5529-1078C>A rs73922370 0.25181
NM_001127222.2(CACNA1A):c.4756-97G>A rs8103699 0.24285
NM_001127222.2(CACNA1A):c.1345+72dup rs3834988 0.24173
NM_001127222.2(CACNA1A):c.5249+78G>T rs3765012 0.22456
NM_001127222.2(CACNA1A):c.1345+76G>A rs3764665 0.21715
NM_001127222.2(CACNA1A):c.1256-224C>A rs11085843 0.21469
NM_001127222.2(CACNA1A):c.1256-240T>C rs10425496 0.21198
NM_001127222.2(CACNA1A):c.1083-100A>C rs28425191 0.17765
NM_001127222.2(CACNA1A):c.3861T>C (p.Phe1287=) rs16030 0.17482
NM_001127222.2(CACNA1A):c.2173-284T>A rs60965377 0.16919
NM_001127222.2(CACNA1A):c.2173-284_2173-283insC rs113638557 0.16909
NM_001127222.2(CACNA1A):c.5401-14C>T rs16042 0.16269
NM_001127222.2(CACNA1A):c.5625+279C>T rs3786935 0.14311
NM_001127222.2(CACNA1A):c.3057G>A (p.Arg1019=) rs16025 0.14118
NM_001127222.2(CACNA1A):c.5941-52C>T rs72995963 0.13943
NM_001127222.2(CACNA1A):c.2975A>T (p.Glu992Val) rs16023 0.13336
NM_001127222.2(CACNA1A):c.1198+328A>T rs10402089 0.13062
NM_001127222.2(CACNA1A):c.1914-39G>A rs16015 0.12483
NM_001127222.2(CACNA1A):c.400-173C>T rs58070391 0.12443
NM_001127222.2(CACNA1A):c.400-123G>T rs3764615 0.12411
NM_001127222.2(CACNA1A):c.1669-346G>A rs72995527 0.12213
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.3554-90G>A rs3764580 0.11349
NM_001127222.2(CACNA1A):c.784+313C>T rs57087220 0.11279
NM_001127222.2(CACNA1A):c.2280-212C>T rs56007854 0.10030
NM_001127222.2(CACNA1A):c.293+277A>G rs112198999 0.09611
NM_001127222.2(CACNA1A):c.4590+184T>C rs17846939 0.08394
NM_001127222.2(CACNA1A):c.3693-127T>C rs72993587 0.08375
NM_001127222.2(CACNA1A):c.876A>G (p.Glu292=) rs16006 0.08064
NM_001127222.2(CACNA1A):c.4389-223C>T rs41276884 0.08034
NM_001127222.2(CACNA1A):c.4756-238G>A rs12610363 0.08025
NM_001127222.2(CACNA1A):c.4388+221_4388+233del rs745747852 0.07853
NM_001127222.2(CACNA1A):c.3310G>A (p.Gly1104Ser) rs16027 0.07737
NM_001127222.2(CACNA1A):c.1256-213A>G rs8101890 0.07456
NM_001127222.2(CACNA1A):c.6303+69A>C rs60185051 0.06829
NM_001127222.2(CACNA1A):c.3823-295G>T rs16978961 0.06530
NM_001127222.2(CACNA1A):c.5528+1223C>T rs17846918 0.06360
NM_001127222.2(CACNA1A):c.978+104G>A rs16007 0.05493
NM_001127222.2(CACNA1A):c.6340-192G>A rs79459566 0.05404
NM_001127222.2(CACNA1A):c.1556-164G>A rs79071114 0.05239
NM_001127222.2(CACNA1A):c.1199-194A>G rs10421055 0.04757
NM_001127222.2(CACNA1A):c.1255+132T>C rs41276892 0.04136
NM_001127222.2(CACNA1A):c.7365C>A (p.Pro2455=) rs16057 0.04042
NM_001127222.2(CACNA1A):c.1668+339C>T rs9677000 0.04022
NM_001127222.2(CACNA1A):c.1782-20C>T rs73513425 0.03727
NM_001127222.2(CACNA1A):c.1626G>A (p.Thr542=) rs16011 0.03687
NM_001127222.2(CACNA1A):c.1668+160T>C rs10407217 0.03687
NM_001127222.2(CACNA1A):c.1198+326T>A rs75074873 0.03533
NM_001127222.2(CACNA1A):c.1198+168T>C rs79653562 0.03515
NM_001127222.2(CACNA1A):c.6837G>A (p.Pro2279=) rs147221323 0.03348
NM_001127222.2(CACNA1A):c.540-30C>G rs17846942 0.03320
NM_001127222.2(CACNA1A):c.3693-107G>A rs78545770 0.03186
NM_001127222.2(CACNA1A):c.1555+60C>T rs28542738 0.02933
NM_001127222.2(CACNA1A):c.4755+100A>G rs10402924 0.02800
NM_001127222.2(CACNA1A):c.3693-249G>A rs10414337 0.02723
NM_001127222.2(CACNA1A):c.1781+18C>A rs16013 0.02392
NM_001127222.2(CACNA1A):c.3028C>G (p.Pro1010Ala) rs28413664 0.02366
NM_001127222.2(CACNA1A):c.4591-152A>G rs74782873 0.02167
NM_001127222.2(CACNA1A):c.6378C>T (p.Ser2126=) rs16050 0.02098
NM_001127222.2(CACNA1A):c.3882+196C>T rs147999365 0.02039
NM_001127222.2(CACNA1A):c.785-120del rs150584850 0.02031
NM_001127222.2(CACNA1A):c.5529-1076C>A rs17846920 0.01911
NM_001127222.2(CACNA1A):c.6339+314T>C rs116457834 0.01789
NM_001127222.2(CACNA1A):c.3546C>T (p.Val1182=) rs16029 0.01749
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.2192A>C (p.Glu731Ala) rs16019 0.01053
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.462C>T (p.Ala154=) rs1800039 0.00699
NM_001127222.2(CACNA1A):c.2826C>T (p.Ser942=) rs181024112 0.00646
NM_001127222.2(CACNA1A):c.2737C>T (p.Pro913Ser) rs16020 0.00616
NM_001127222.2(CACNA1A):c.3237C>T (p.Ala1079=) rs16026 0.00616
NM_001127222.2(CACNA1A):c.6342C>G (p.Thr2114=) rs16049 0.00467
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.5067+20G>A rs184517632 0.00390
NM_001127222.2(CACNA1A):c.2130C>G (p.Ala710=) rs16017 0.00329
NM_001127222.2(CACNA1A):c.1698C>T (p.Ile566=) rs190603219 0.00314
NM_001127222.2(CACNA1A):c.4089+22G>A rs147533160 0.00277
NM_001127222.2(CACNA1A):c.2678G>A (p.Arg893Gln) rs374664760 0.00262
NM_001127222.2(CACNA1A):c.4632C>T (p.Thr1544=) rs150378053 0.00188
NM_001127222.2(CACNA1A):c.1614C>T (p.Tyr538=) rs182505786 0.00153
NM_001127222.2(CACNA1A):c.3457C>G (p.Gln1153Glu) rs201612257 0.00145
NM_001127222.2(CACNA1A):c.2104+27G>A rs183378048 0.00143
NM_001127222.2(CACNA1A):c.4950+3704C>T rs370406227 0.00135
NM_001127222.2(CACNA1A):c.1623G>A (p.Gly541=) rs375628894 0.00131
NM_001127222.2(CACNA1A):c.5400+36C>G rs368172384 0.00127
NM_001127222.2(CACNA1A):c.1518T>C (p.Val506=) rs16009 0.00114
NM_001127222.2(CACNA1A):c.4950+3703A>C rs190268214 0.00114
NM_001127222.2(CACNA1A):c.1914-4G>A rs191026552 0.00108
NM_001127222.2(CACNA1A):c.1255+38G>A rs374298155 0.00095
NM_001127222.2(CACNA1A):c.2687C>G (p.Pro896Arg) rs121908242 0.00091
NM_001127222.2(CACNA1A):c.6303+38C>T rs369748104 0.00083
NM_001127222.2(CACNA1A):c.3355G>A (p.Ala1119Thr) rs199745070 0.00074
NM_001127222.2(CACNA1A):c.5650G>A (p.Val1884Ile) rs201836062 0.00070
NM_001127222.2(CACNA1A):c.1083-4C>G rs201056216 0.00069
NM_001127222.2(CACNA1A):c.5941-38A>C rs374288486 0.00062
NM_001127222.2(CACNA1A):c.4950+3617G>A rs370749141 0.00060
NM_001127222.2(CACNA1A):c.3309C>T (p.Pro1103=) rs374749004 0.00057
NM_001127222.2(CACNA1A):c.3409C>G (p.Pro1137Ala) rs199793367 0.00057
NM_001127222.2(CACNA1A):c.2823G>A (p.Glu941=) rs374511141 0.00045
NM_001127222.2(CACNA1A):c.5649C>G (p.Pro1883=) rs61741139 0.00042
NM_001127222.2(CACNA1A):c.5732-6T>C rs16043 0.00041
NM_001127222.2(CACNA1A):c.5897G>A (p.Arg1966Gln) rs199886234 0.00039
NM_001127222.2(CACNA1A):c.2844C>G (p.Arg948=) rs559862641 0.00036
NM_001127222.2(CACNA1A):c.5757C>T (p.Asp1919=) rs368042511 0.00036
NM_001127222.2(CACNA1A):c.1199-17G>C rs190836274 0.00034
NM_001127222.2(CACNA1A):c.5249+29T>C rs17846914 0.00033
NM_001127222.2(CACNA1A):c.1572T>A (p.Ile524=) rs16010 0.00030
NM_001127222.2(CACNA1A):c.62C>T (p.Ala21Val) rs15999 0.00025
NM_001127222.2(CACNA1A):c.3089+34C>T rs185690935 0.00020
NM_001127222.2(CACNA1A):c.5652C>T (p.Val1884=) rs17846921 0.00019
NM_001127222.2(CACNA1A):c.1983T>C (p.Phe661=) rs368033271 0.00016
NM_001127222.2(CACNA1A):c.5250-27G>A rs200200460 0.00016
NM_001127222.2(CACNA1A):c.796G>A (p.Gly266Ser) rs17846908 0.00014
NM_001127222.2(CACNA1A):c.6584G>A (p.Arg2195Gln) rs373192655 0.00012
NM_001127222.2(CACNA1A):c.2867G>T (p.Arg956Leu) rs551380805 0.00009
NM_001127222.2(CACNA1A):c.3701G>A (p.Arg1234His) rs373183625 0.00009
NM_001127222.2(CACNA1A):c.294-6C>T rs764502828 0.00006
NM_001127222.2(CACNA1A):c.4404G>A (p.Ser1468=) rs557205300 0.00006
NM_001127222.2(CACNA1A):c.5994A>G (p.Glu1998=) rs16045 0.00006
NM_001127222.2(CACNA1A):c.4591-9C>G rs16032 0.00005
NM_001127222.2(CACNA1A):c.3684G>A (p.Thr1228=) rs368048030 0.00004
NM_001127222.2(CACNA1A):c.4089+29G>T rs574706114 0.00004
NM_001127222.2(CACNA1A):c.4755+46G>A rs190809550 0.00004
NM_001127222.2(CACNA1A):c.4362C>T (p.Thr1454=) rs190264873 0.00003
NM_001127222.2(CACNA1A):c.318C>T (p.Ala106=) rs554701306 0.00001
NM_001127222.2(CACNA1A):c.3304G>A (p.Asp1102Asn) rs372823282 0.00001
NM_001127222.2(CACNA1A):c.-76GCG[9] rs16000
NM_001127222.2(CACNA1A):c.1083-68_1083-63del rs201437979
NM_001127222.2(CACNA1A):c.1083-68_1083-65del rs199586393
NM_001127222.2(CACNA1A):c.1083-68_1083-67del rs146977188
NM_001127222.2(CACNA1A):c.1256-194T>A rs10425460
NM_001127222.2(CACNA1A):c.1256-194T>G rs10425460
NM_001127222.2(CACNA1A):c.1256-267TAAA[2] rs142629187
NM_001127222.2(CACNA1A):c.1782-37C>T rs200221609
NM_001127222.2(CACNA1A):c.2279+223dup rs60111064
NM_001127222.2(CACNA1A):c.2279+232del rs60111064
NM_001127222.2(CACNA1A):c.2737_2739delinsTCT (p.Pro913Ser) rs886043758
NM_001127222.2(CACNA1A):c.2739C>T (p.Pro913=) rs16021
NM_001127222.2(CACNA1A):c.2968GAGGGC[4] (p.990EG[4]) rs764399373
NM_001127222.2(CACNA1A):c.3265G>T (p.Gly1089Cys) rs201311000
NM_001127222.2(CACNA1A):c.3531C>A (p.Pro1177=) rs184723350
NM_001127222.2(CACNA1A):c.3531C>G (p.Pro1177=) rs184723350
NM_001127222.2(CACNA1A):c.3601AAG[1] (p.Lys1202del) rs772989979
NM_001127222.2(CACNA1A):c.4756-216del rs34069029
NM_001127222.2(CACNA1A):c.4950+72G>A rs16037
NM_001127222.2(CACNA1A):c.5068-49C>T rs373831178
NM_001127222.2(CACNA1A):c.5249+165_5249+189del rs202051301
NM_001127222.2(CACNA1A):c.5528+1019del rs61098915
NM_001127222.2(CACNA1A):c.5529-1078CT[6] rs34941295
NM_001127222.2(CACNA1A):c.5529-1080_5529-1077del rs36088930
NM_001127222.2(CACNA1A):c.5529-1098AT[9] rs74181814
NM_001127222.2(CACNA1A):c.5529-969_5529-968del rs148014508
NM_001127222.2(CACNA1A):c.5625+50CTT[4] rs143245670
NM_001127222.2(CACNA1A):c.5625+63dup rs527479319
NM_001127222.2(CACNA1A):c.5731+178_5731+180del rs71168691
NM_001127222.2(CACNA1A):c.5731+330dup rs71168690
NM_001127222.2(CACNA1A):c.5840-82C>G rs17846925
NM_001127222.2(CACNA1A):c.5941-109GT[10] rs61178346
NM_001127222.2(CACNA1A):c.5941-109GT[12] rs61178346
NM_001127222.2(CACNA1A):c.5941-109GT[14] rs61178346
NM_001127222.2(CACNA1A):c.5941-109GT[15] rs61178346
NM_001127222.2(CACNA1A):c.6189+35G>A rs143518953
NM_001127222.2(CACNA1A):c.6189+74A>C rs16048
NM_001127222.2(CACNA1A):c.6265C>A (p.Arg2089=) rs200093958
NM_001127222.2(CACNA1A):c.6303+94del rs3217380
NM_001127222.2(CACNA1A):c.632-211dup rs34216609
NM_001127222.2(CACNA1A):c.6466C>T (p.Arg2156Cys) rs554393704
NM_001127222.2(CACNA1A):c.6526+124G>C rs2304093
NM_001127222.2(CACNA1A):c.6526+84G>A rs73509459
NM_001127222.2(CACNA1A):c.6587_6598del (p.Asp2196_Arg2199del) rs763941704
NM_001127222.2(CACNA1A):c.6630CCA[10] (p.His2219dup) rs759331923
NM_001127222.2(CACNA1A):c.6630CCA[8] (p.His2219del) rs759331923
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.6658_6659insACC (p.His2219dup) rs768950814
NM_001127222.2(CACNA1A):c.6669C>T (p.Pro2223=) rs2304094
NM_001127222.2(CACNA1A):c.6781-121_6781-116del rs148672975
NM_001127222.2(CACNA1A):c.6781-130_6781-122del rs757555243
NM_001127222.2(CACNA1A):c.6781-139_6781-122del rs878905432
NM_001127222.2(CACNA1A):c.6781-148TCC[4] rs376408077
NM_001127222.2(CACNA1A):c.785-239dup rs200920495

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