ClinVar Miner

List of variants in gene CACNA1A reported as benign by Invitae

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Gene type:
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Total variants: 115
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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.876A>G (p.Glu292=) rs16006 0.08064
NM_001127222.2(CACNA1A):c.3310G>A (p.Gly1104Ser) rs16027 0.07737
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.1781+18C>A rs16013 0.02392
NM_001127222.2(CACNA1A):c.3028C>G (p.Pro1010Ala) rs28413664 0.02366
NM_001127222.2(CACNA1A):c.6378C>T (p.Ser2126=) rs16050 0.02098
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.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.2678G>A (p.Arg893Gln) rs374664760 0.00262
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.1614C>T (p.Tyr538=) rs182505786 0.00153
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.5840-14G>A rs184658006 0.00082
NM_001127222.2(CACNA1A):c.5400+15A>C rs373246283 0.00078
NM_001127222.2(CACNA1A):c.1083-4C>G rs201056216 0.00069
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.6527-19T>C rs375949210 0.00058
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.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.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.888C>T (p.Asn296=) rs372812865 0.00026
NM_001127222.2(CACNA1A):c.62C>T (p.Ala21Val) rs15999 0.00025
NM_001127222.2(CACNA1A):c.4311G>A (p.Lys1437=) rs572036869 0.00023
NM_001127222.2(CACNA1A):c.4866+13T>C rs368876802 0.00019
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.3016C>T (p.Arg1006Trp) rs757026025 0.00016
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.321C>T (p.Thr107=) rs759754710 0.00008
NM_001127222.2(CACNA1A):c.3063C>A (p.Asp1021Glu) rs1038705410 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.5994A>G (p.Glu1998=) rs16045 0.00006
NM_001127222.2(CACNA1A):c.4591-9C>G rs16032 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.4521C>A (p.Ala1507=) rs183712771 0.00004
NM_001127222.2(CACNA1A):c.4362C>T (p.Thr1454=) rs190264873 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.5731+14del rs762645821 0.00002
NM_001127222.2(CACNA1A):c.6140C>T (p.Pro2047Leu) rs539347883 0.00002
NM_001127222.2(CACNA1A):c.2759C>G (p.Ala920Gly) rs538079885 0.00001
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.3308C>T (p.Pro1103Leu) rs554455455 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=)
NM_001127222.2(CACNA1A):c.2759C>T (p.Ala920Val)
NM_001127222.2(CACNA1A):c.2892C>G (p.Pro964=)
NM_001127222.2(CACNA1A):c.3302C>T (p.Thr1101Ile) rs768567834
NM_001127222.2(CACNA1A):c.3319C>T (p.Leu1107=)
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.3609G>A (p.Glu1203=) rs529584159
NM_001127222.2(CACNA1A):c.3693-19G>A
NM_001127222.2(CACNA1A):c.3807C>T (p.Asn1269=) rs557721660
NM_001127222.2(CACNA1A):c.3990-9C>T
NM_001127222.2(CACNA1A):c.4941T>A (p.Thr1647=)
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

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