ClinVar Miner

List of variants in gene KCNA2 studied for Inborn genetic diseases

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_004974.4(KCNA2):c.1392T>G (p.Gly464=) rs115456625 0.00993
NM_004974.4(KCNA2):c.1299A>T (p.Thr433=) rs80034565 0.00111
NM_004974.4(KCNA2):c.213C>T (p.Pro71=) rs116111724 0.00076
NM_004974.4(KCNA2):c.807C>T (p.Thr269=) rs146036196 0.00069
NM_004974.4(KCNA2):c.1047A>G (p.Ala349=) rs371979518 0.00026
NM_004974.4(KCNA2):c.30C>T (p.Asp10=) rs757960714 0.00007
NM_004974.4(KCNA2):c.35C>T (p.Ala12Val) rs372822052 0.00006
NM_004974.4(KCNA2):c.1107C>T (p.Val369=) rs141466713 0.00005
NM_004974.4(KCNA2):c.1053C>T (p.Ala351=) rs748008112 0.00003
NM_004974.4(KCNA2):c.1215G>A (p.Pro405=) rs368489072 0.00003
NM_004974.4(KCNA2):c.1297A>G (p.Thr433Ala) rs200107528 0.00003
NM_004974.4(KCNA2):c.168G>A (p.Glu56=) rs768793748 0.00003
NM_004974.4(KCNA2):c.544C>A (p.Leu182Met) rs367662144 0.00002
NM_004974.4(KCNA2):c.590G>A (p.Gly197Asp) rs752985457 0.00002
NM_004974.4(KCNA2):c.68A>G (p.Tyr23Cys) rs753829876 0.00002
NM_004974.4(KCNA2):c.*1215G>A rs1234112854 0.00001
NM_004974.4(KCNA2):c.1154T>C (p.Ile385Thr) rs1197586006 0.00001
NM_004974.4(KCNA2):c.1383C>T (p.Ile461=) rs749832672 0.00001
NM_004974.4(KCNA2):c.1433A>G (p.Lys478Arg) rs1243868138 0.00001
NM_004974.4(KCNA2):c.248C>T (p.Pro83Leu) rs1649512695 0.00001
NM_004974.4(KCNA2):c.273C>T (p.Tyr91=) rs750174299 0.00001
NM_004974.4(KCNA2):c.468A>G (p.Pro156=) rs760066263 0.00001
NM_004974.4(KCNA2):c.*1150G>A rs769776238
NM_004974.4(KCNA2):c.*1254G>T
NM_004974.4(KCNA2):c.*9384G>T
NM_004974.4(KCNA2):c.1130A>G (p.Tyr377Cys) rs2524616704
NM_004974.4(KCNA2):c.1185G>A (p.Ala395=) rs78349687
NM_004974.4(KCNA2):c.1185G>C (p.Ala395=) rs78349687
NM_004974.4(KCNA2):c.1204A>G (p.Ile402Val) rs1366237350
NM_004974.4(KCNA2):c.1205T>C (p.Ile402Thr) rs2101396495
NM_004974.4(KCNA2):c.1214C>T (p.Pro405Leu) rs876657389
NM_004974.4(KCNA2):c.1266_1344del (p.Gly423fs) rs2524615225
NM_004974.4(KCNA2):c.1291C>G (p.Gln431Glu) rs2101395841
NM_004974.4(KCNA2):c.1312A>G (p.Ile438Val) rs1302772655
NM_004974.4(KCNA2):c.1354A>G (p.Thr452Ala) rs765999960
NM_004974.4(KCNA2):c.296G>A (p.Arg99Lys) rs2524622393
NM_004974.4(KCNA2):c.438G>T (p.Gln146His) rs764428302
NM_004974.4(KCNA2):c.462A>G (p.Glu154=) rs1649499414
NM_004974.4(KCNA2):c.539T>G (p.Phe180Cys) rs2524620795
NM_004974.4(KCNA2):c.630C>T (p.Ile210=) rs761112803
NM_004974.4(KCNA2):c.632G>T (p.Gly211Val) rs2524620021
NM_004974.4(KCNA2):c.694T>A (p.Trp232Arg) rs1553181370
NM_004974.4(KCNA2):c.703T>G (p.Phe235Val) rs2524619506
NM_004974.4(KCNA2):c.842C>T (p.Ala281Val) rs2524618434
NM_004974.4(KCNA2):c.869T>G (p.Leu290Arg) rs1085307768
NM_004974.4(KCNA2):c.881G>A (p.Arg294His) rs886041761
NM_004974.4(KCNA2):c.890G>A (p.Arg297Gln) rs786205232
NM_004974.4(KCNA2):c.972C>A (p.Ser324Arg) rs765820644

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.