ClinVar Miner

List of variants in gene CACNA1A reported as likely pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 53
Download table as spreadsheet
HGVS dbSNP
GRCh37/hg19 19p13.2(chr19:13561015-13604751)x1
NC_000019.10:g.13212102C>T
NM_001127221.1(CACNA1A):c.104del (p.Gly35fs) rs1568720031
NM_001127221.1(CACNA1A):c.1060C>T (p.Leu354Phe) rs1555767914
NM_001127221.1(CACNA1A):c.1084G>T (p.Glu362Ter) rs1064796640
NM_001127221.1(CACNA1A):c.1198+1G>A rs1057518513
NM_001127221.1(CACNA1A):c.1364G>A (p.Arg455Gln) rs561858384
NM_001127221.1(CACNA1A):c.1558+2del
NM_001127221.1(CACNA1A):c.1589_1590del (p.Phe530fs) rs1555761603
NM_001127221.1(CACNA1A):c.1597G>A (p.Glu533Lys) rs1064794263
NM_001127221.1(CACNA1A):c.1949del (p.Asn650fs) rs1568518113
NM_001127221.1(CACNA1A):c.1987C>T (p.Gln663Ter) rs1064795856
NM_001127221.1(CACNA1A):c.2070_2071delinsGGAG (p.Phe690fs) rs1568514371
NM_001127221.1(CACNA1A):c.2136C>G (p.Ile712Met) rs764839814
NM_001127221.1(CACNA1A):c.2137G>A (p.Ala713Thr) rs886037945
NM_001127221.1(CACNA1A):c.2147A>C (p.Asn716Thr) rs1555757432
NM_001127221.1(CACNA1A):c.2902G>T (p.Glu968Ter) rs1555755929
NM_001127221.1(CACNA1A):c.3042C>A (p.Tyr1014Ter) rs1568507151
NM_001127221.1(CACNA1A):c.3264_3319del (p.Leu1091fs) rs1555752975
NM_001127221.1(CACNA1A):c.3686C>T (p.Thr1229Met) rs1057518532
NM_001127221.1(CACNA1A):c.3993-2A>G rs1057524483
NM_001127221.1(CACNA1A):c.4045C>T (p.Arg1349Trp) rs1064794858
NM_001127221.1(CACNA1A):c.4055G>T (p.Arg1352Leu) rs1555745467
NM_001127221.1(CACNA1A):c.4075C>T (p.Arg1359Trp) rs1555745461
NM_001127221.1(CACNA1A):c.4082C>A (p.Pro1361Gln) rs1064795800
NM_001127221.1(CACNA1A):c.4093-3C>G rs1555745158
NM_001127221.1(CACNA1A):c.409G>A (p.Glu137Lys) rs1057518116
NM_001127221.1(CACNA1A):c.4177G>A (p.Val1393Met) rs794727411
NM_001127221.1(CACNA1A):c.4386G>A (p.Trp1462Ter) rs1057518069
NM_001127221.1(CACNA1A):c.4523C>A (p.Ala1508Asp) rs1064794629
NM_001127221.1(CACNA1A):c.4636C>T (p.Arg1546Ter) rs121909324
NM_001127221.1(CACNA1A):c.4982G>A (p.Arg1661His) rs121908216
NM_001127221.1(CACNA1A):c.4991G>A (p.Arg1664Gln) rs121908247
NM_001127221.1(CACNA1A):c.5000G>C (p.Arg1667Pro)
NM_001127221.1(CACNA1A):c.5018G>C (p.Arg1673Pro) rs1057519429
NM_001127221.1(CACNA1A):c.5128G>A (p.Gly1710Arg) rs1555738200
NM_001127221.1(CACNA1A):c.5134C>A (p.Gln1712Lys) rs1064795751
NM_001127221.1(CACNA1A):c.5263G>A (p.Gly1755Arg) rs1555737113
NM_001127221.1(CACNA1A):c.5395T>C (p.Ser1799Pro) rs1568443280
NM_001127221.1(CACNA1A):c.5403+2T>C rs1057519197
NM_001127221.1(CACNA1A):c.5422G>T (p.Ala1808Ser) rs1555736565
NM_001127221.1(CACNA1A):c.5628+1G>A rs1555736262
NM_001127221.1(CACNA1A):c.574C>T (p.Arg192Trp) rs1057518779
NM_001127221.1(CACNA1A):c.5842+1G>T rs951196653
NM_001127221.1(CACNA1A):c.6046G>T (p.Gly2016Ter) rs746848153
NM_001127221.1(CACNA1A):c.6117del (p.Met2039fs) rs1064796199
NM_001127221.1(CACNA1A):c.6193-2A>C rs1064796709
NM_001127221.1(CACNA1A):c.631+5G>A rs786200963
NM_001127221.1(CACNA1A):c.676_784+1178del
NM_001127221.1(CACNA1A):c.757C>T (p.His253Tyr) rs121908228
NM_001127221.1(CACNA1A):c.814T>C (p.Cys272Arg) rs1568569290
NM_001127221.1(CACNA1A):c.904G>A (p.Asp302Asn) rs863224852
NM_001127221.1(CACNA1A):c.992C>G (p.Ser331Ter) rs1555767930

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.