ClinVar Miner

List of variants in gene KCNJ2 reported as pathogenic by OMIM

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000891.3(KCNJ2):c.277G>A (p.Val93Ile) rs147750704 0.00007
NM_000891.3(KCNJ2):c.161G>T (p.Cys54Phe) rs199473650
NM_000891.3(KCNJ2):c.199C>T (p.Arg67Trp) rs104894580
NM_000891.3(KCNJ2):c.212A>T (p.Asp71Val) rs104894575
NM_000891.3(KCNJ2):c.224C>G (p.Thr75Arg) rs104894585
NM_000891.3(KCNJ2):c.285_296del (p.Trp96_Phe99del) rs2144376746
NM_000891.3(KCNJ2):c.514G>A (p.Asp172Asn) rs104894584
NM_000891.3(KCNJ2):c.557C>T (p.Pro186Leu) rs104894581
NM_000891.3(KCNJ2):c.646A>C (p.Asn216His) rs104894583
NM_000891.3(KCNJ2):c.652C>T (p.Arg218Trp) rs104894578
NM_000891.3(KCNJ2):c.896A>T (p.Glu299Val) rs786205817
NM_000891.3(KCNJ2):c.899G>T (p.Gly300Val) rs104894579
NM_000891.3(KCNJ2):c.902T>A (p.Met301Lys)
NM_000891.3(KCNJ2):c.904G>A (p.Val302Met) rs104894582
NM_000891.3(KCNJ2):c.913A>C (p.Thr305Pro) rs199473387
NM_000891.3(KCNJ2):c.939_944del (p.Ser314_Tyr315del) rs2074390325

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