ClinVar Miner

List of variants in gene KCNQ3 reported as pathogenic

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Total variants: 16
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NM_004519.4(KCNQ3):c.1000G>A (p.Ala334Thr) rs1381851622
NM_004519.4(KCNQ3):c.1142C>T (p.Ala381Val) rs1554626549
NM_004519.4(KCNQ3):c.1403A>G (p.Asn468Ser) rs118192252
NM_004519.4(KCNQ3):c.1599dup (p.Phe534fs) rs762289015
NM_004519.4(KCNQ3):c.1720C>T (p.Pro574Ser) rs74582884
NM_004519.4(KCNQ3):c.1885G>C (p.Val629Leu) rs185511111
NM_004519.4(KCNQ3):c.2263G>A (p.Asp755Asn) rs150821246
NM_004519.4(KCNQ3):c.2462A>G (p.Asn821Ser) rs118192254
NM_004519.4(KCNQ3):c.679C>T (p.Arg227Ter) rs796052675
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys) rs796052676
NM_004519.4(KCNQ3):c.689G>A (p.Arg230His) rs749205120
NM_004519.4(KCNQ3):c.895G>A (p.Glu299Lys) rs118192247
NM_004519.4(KCNQ3):c.914A>G (p.Asp305Gly) rs118192248
NM_004519.4(KCNQ3):c.925T>C (p.Trp309Arg) rs118192249
NM_004519.4(KCNQ3):c.929G>T (p.Gly310Val) rs118192250
NM_004519.4(KCNQ3):c.988C>T (p.Arg330Cys) rs118192251

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