ClinVar Miner

List of variants in gene KCNA2 studied for Inborn genetic diseases

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Total variants: 42
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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 0.00121
NM_004974.4(KCNA2):c.213C>T (p.Pro71=) rs116111724 0.00076
NM_004974.4(KCNA2):c.807C>T (p.Thr269=) rs146036196 0.00073
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.168G>A (p.Glu56=) rs768793748 0.00004
NM_004974.4(KCNA2):c.1215G>A (p.Pro405=) rs368489072 0.00003
NM_004974.4(KCNA2):c.1053C>T (p.Ala351=) rs748008112 0.00002
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.1154T>C (p.Ile385Thr) rs1197586006 0.00001
NM_004974.4(KCNA2):c.273C>T (p.Tyr91=) rs750174299 0.00001
NM_004974.4(KCNA2):c.*1150G>A
NM_004974.4(KCNA2):c.*1215G>A
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.1214C>T (p.Pro405Leu)
NM_004974.4(KCNA2):c.1266_1344del (p.Gly423fs)
NM_004974.4(KCNA2):c.1291C>G (p.Gln431Glu) rs2101395841
NM_004974.4(KCNA2):c.1297A>G (p.Thr433Ala)
NM_004974.4(KCNA2):c.1312A>G (p.Ile438Val)
NM_004974.4(KCNA2):c.1354A>G (p.Thr452Ala) rs765999960
NM_004974.4(KCNA2):c.1383C>T (p.Ile461=)
NM_004974.4(KCNA2):c.248C>T (p.Pro83Leu)
NM_004974.4(KCNA2):c.296G>A (p.Arg99Lys)
NM_004974.4(KCNA2):c.438G>T (p.Gln146His)
NM_004974.4(KCNA2):c.462A>G (p.Glu154=)
NM_004974.4(KCNA2):c.468A>G (p.Pro156=)
NM_004974.4(KCNA2):c.539T>G (p.Phe180Cys)
NM_004974.4(KCNA2):c.630C>T (p.Ile210=) rs761112803
NM_004974.4(KCNA2):c.632G>T (p.Gly211Val)
NM_004974.4(KCNA2):c.694T>A (p.Trp232Arg) rs1553181370
NM_004974.4(KCNA2):c.703T>G (p.Phe235Val)
NM_004974.4(KCNA2):c.842C>T (p.Ala281Val)
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)

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