ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 48
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 0.66161
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.1776C>G (p.Val592=) rs16012 0.01217
NM_001127222.2(CACNA1A):c.579G>A (p.Thr193=) rs41276894 0.01215
NM_001127222.2(CACNA1A):c.7431C>T (p.Tyr2477=) rs16059 0.00712
NM_001127222.2(CACNA1A):c.1345+7C>T rs192536793 0.00213
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.3622G>A (p.Asp1208Asn) rs750231498 0.00004
NM_001127222.2(CACNA1A):c.6125C>T (p.Thr2042Met) rs563345694 0.00003
NM_001127222.2(CACNA1A):c.3228G>A (p.Ala1076=) rs373678395 0.00002
NM_001127222.2(CACNA1A):c.6482G>A (p.Arg2161His) rs769503871 0.00002
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.6532G>A (p.Gly2178Arg) rs953871050 0.00001
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.3148A>G (p.Ile1050Val)
NM_001127222.2(CACNA1A):c.3411del (p.Lys1138fs) rs746790849
NM_001127222.2(CACNA1A):c.362dup (p.Pro122fs)
NM_001127222.2(CACNA1A):c.3765G>A (p.Met1255Ile) rs2144871559
NM_001127222.2(CACNA1A):c.4340G>C (p.Trp1447Ser)
NM_001127222.2(CACNA1A):c.5515G>T (p.Asp1839Tyr)
NM_001127222.2(CACNA1A):c.5529-1231C>T rs1296262946
NM_001127222.2(CACNA1A):c.5749C>A (p.Gln1917Lys)
NM_001127222.2(CACNA1A):c.5780_5783dup (p.Ile1929fs)
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.6643C>T (p.His2215Tyr)
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.978+1G>A

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.