ClinVar Miner

List of variants in gene CACNA1A reported as benign by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 115
Download table as spreadsheet
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 0.67341
NM_001127222.2(CACNA1A):c.1182G>A (p.Glu394=) rs2248069 0.64010
NM_001127222.2(CACNA1A):c.3861T>C (p.Phe1287=) rs16030 0.17770
NM_001127222.2(CACNA1A):c.5401-14C>T rs16042 0.17216
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 0.08263
NM_001127222.2(CACNA1A):c.876A>G (p.Glu292=) rs16006 0.08064
NM_001127222.2(CACNA1A):c.1782-20C>T rs73513425 0.03460
NM_001127222.2(CACNA1A):c.1626G>A (p.Thr542=) rs16011 0.03420
NM_001127222.2(CACNA1A):c.1781+18C>A rs16013 0.02392
NM_001127222.2(CACNA1A):c.3028C>G (p.Pro1010Ala) rs28413664 0.02172
NM_001127222.2(CACNA1A):c.6378C>T (p.Ser2126=) rs16050 0.01946
NM_001127222.2(CACNA1A):c.3546C>T (p.Val1182=) rs16029 0.01726
NM_001127222.2(CACNA1A):c.5739C>T (p.Ala1913=) rs16044 0.01323
NM_001127222.2(CACNA1A):c.579G>A (p.Thr193=) rs41276894 0.01215
NM_001127222.2(CACNA1A):c.1776C>G (p.Val592=) rs16012 0.01192
NM_001127222.2(CACNA1A):c.2192A>C (p.Glu731Ala) rs16019 0.01021
NM_001127222.2(CACNA1A):c.6126G>A (p.Thr2042=) rs7249722 0.00722
NM_001127222.2(CACNA1A):c.462C>T (p.Ala154=) rs1800039 0.00699
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.2826C>T (p.Ser942=) rs181024112 0.00609
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 0.00382
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.2678G>A (p.Arg893Gln) rs374664760 0.00262
NM_001127222.2(CACNA1A):c.1345+7C>T rs192536793 0.00213
NM_001127222.2(CACNA1A):c.6342C>G (p.Thr2114=) rs16049 0.00191
NM_001127222.2(CACNA1A):c.4632C>T (p.Thr1544=) rs150378053 0.00182
NM_001127222.2(CACNA1A):c.1614C>T (p.Tyr538=) rs182505786 0.00153
NM_001127222.2(CACNA1A):c.1518T>C (p.Val506=) rs16009 0.00131
NM_001127222.2(CACNA1A):c.1623G>A (p.Gly541=) rs375628894 0.00131
NM_001127222.2(CACNA1A):c.1914-4G>A rs191026552 0.00107
NM_001127222.2(CACNA1A):c.5732-6T>C rs16043 0.00086
NM_001127222.2(CACNA1A):c.5840-14G>A rs184658006 0.00083
NM_001127222.2(CACNA1A):c.5400+15A>C rs373246283 0.00078
NM_001127222.2(CACNA1A):c.1083-4C>G rs201056216 0.00064
NM_001127222.2(CACNA1A):c.6561C>T (p.Ser2187=) rs371116746 0.00064
NM_001127222.2(CACNA1A):c.4644G>A (p.Pro1548=) rs199854716 0.00060
NM_001127222.2(CACNA1A):c.3309C>T (p.Pro1103=) rs374749004 0.00057
NM_001127222.2(CACNA1A):c.3693-20C>T rs200082880 0.00048
NM_001127222.2(CACNA1A):c.6527-19T>C rs375949210 0.00048
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.5897G>A (p.Arg1966Gln) rs199886234 0.00039
NM_001127222.2(CACNA1A):c.62C>T (p.Ala21Val) rs15999 0.00037
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.4926C>T (p.Thr1642=) rs16036 0.00031
NM_001127222.2(CACNA1A):c.1572T>A (p.Ile524=) rs16010 0.00030
NM_001127222.2(CACNA1A):c.5133+10G>A rs369033909 0.00029
NM_001127222.2(CACNA1A):c.4311G>A (p.Lys1437=) rs572036869 0.00025
NM_001127222.2(CACNA1A):c.3693-19G>A rs377287549 0.00024
NM_001127222.2(CACNA1A):c.5652C>T (p.Val1884=) rs17846921 0.00022
NM_001127222.2(CACNA1A):c.888C>T (p.Asn296=) rs372812865 0.00021
NM_001127222.2(CACNA1A):c.4591-9C>G rs16032 0.00017
NM_001127222.2(CACNA1A):c.4866+13T>C rs368876802 0.00017
NM_001127222.2(CACNA1A):c.1983T>C (p.Phe661=) rs368033271 0.00016
NM_001127222.2(CACNA1A):c.3016C>T (p.Arg1006Trp) rs757026025 0.00016
NM_001127222.2(CACNA1A):c.3304G>A (p.Asp1102Asn) rs372823282 0.00015
NM_001127222.2(CACNA1A):c.1500G>A (p.Thr500=) rs373192672 0.00014
NM_001127222.2(CACNA1A):c.796G>A (p.Gly266Ser) rs17846908 0.00014
NM_001127222.2(CACNA1A):c.3043G>A (p.Gly1015Arg) rs190551509 0.00013
NM_001127222.2(CACNA1A):c.5859G>A (p.Gly1953=) rs200625174 0.00011
NM_001127222.2(CACNA1A):c.5C>T (p.Ala2Val) rs927310190 0.00011
NM_001127222.2(CACNA1A):c.6061G>A (p.Glu2021Lys) rs202002033 0.00010
NM_001127222.2(CACNA1A):c.3166C>T (p.Arg1056Cys) rs187393245 0.00009
NM_001127222.2(CACNA1A):c.3609G>A (p.Glu1203=) rs529584159 0.00009
NM_001127222.2(CACNA1A):c.5994A>G (p.Glu1998=) rs16045 0.00009
NM_001127222.2(CACNA1A):c.3063C>A (p.Asp1021Glu) rs1038705410 0.00007
NM_001127222.2(CACNA1A):c.4521C>A (p.Ala1507=) rs183712771 0.00007
NM_001127222.2(CACNA1A):c.2749G>A (p.Glu917Lys) rs368081042 0.00006
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.2759C>G (p.Ala920Gly) rs538079885 0.00005
NM_001127222.2(CACNA1A):c.4941T>A (p.Thr1647=) rs765899969 0.00005
NM_001127222.2(CACNA1A):c.6379G>A (p.Val2127Met) rs368183370 0.00005
NM_001127222.2(CACNA1A):c.3684G>A (p.Thr1228=) rs368048030 0.00004
NM_001127222.2(CACNA1A):c.3308C>T (p.Pro1103Leu) rs554455455 0.00003
NM_001127222.2(CACNA1A):c.4362C>T (p.Thr1454=) rs190264873 0.00003
NM_001127222.2(CACNA1A):c.6140C>T (p.Pro2047Leu) rs539347883 0.00003
NM_001127222.2(CACNA1A):c.1556-17C>T rs755361841 0.00002
NM_001127222.2(CACNA1A):c.2754C>T (p.Gly918=) rs371757002 0.00002
NM_001127222.2(CACNA1A):c.321C>T (p.Thr107=) rs759754710 0.00002
NM_001127222.2(CACNA1A):c.3990-9C>T rs765073297 0.00002
NM_001127222.2(CACNA1A):c.5731+14del rs762645821 0.00002
NM_001127222.2(CACNA1A):c.318C>T (p.Ala106=) rs554701306 0.00001
NM_001127222.2(CACNA1A):c.3302C>T (p.Thr1101Ile) rs768567834 0.00001
NM_001127222.2(CACNA1A):c.3882+13T>C rs779233415 0.00001
NM_001127222.2(CACNA1A):c.6316C>T (p.Arg2106Trp) rs771030765 0.00001
NM_001127222.2(CACNA1A):c.1668+7G>A rs567507041
NM_001127222.2(CACNA1A):c.2739C>T (p.Pro913=) rs16021
NM_001127222.2(CACNA1A):c.2751G>A (p.Glu917=) rs16022
NM_001127222.2(CACNA1A):c.2759C>T (p.Ala920Val) rs538079885
NM_001127222.2(CACNA1A):c.2892C>G (p.Pro964=) rs771351347
NM_001127222.2(CACNA1A):c.3319C>T (p.Leu1107=) rs753193795
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.3807C>T (p.Asn1269=) rs557721660
NM_001127222.2(CACNA1A):c.4950+15A>C rs755685706
NM_001127222.2(CACNA1A):c.5840-15TG[5] rs772598066
NM_001127222.2(CACNA1A):c.5940+14C>A rs374115419
NM_001127222.2(CACNA1A):c.6050+14del rs755362952
NM_001127222.2(CACNA1A):c.6265C>A (p.Arg2089=) rs200093958
NM_001127222.2(CACNA1A):c.632-3dup rs2059191701
NM_001127222.2(CACNA1A):c.6658_6659insACC (p.His2219dup) rs768950814
NM_001127222.2(CACNA1A):c.6669C>T (p.Pro2223=) rs2304094

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.