ClinVar Miner

List of variants in gene KCNQ3 reported as pathogenic for Benign familial neonatal seizures 2

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Total variants: 9
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HGVS dbSNP
NM_004519.4(KCNQ3):c.1403A>G (p.Asn468Ser) rs118192252
NM_004519.4(KCNQ3):c.1720C>T (p.Pro574Ser) rs74582884
NM_004519.4(KCNQ3):c.2462A>G (p.Asn821Ser) rs118192254
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys) rs796052676
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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