ClinVar Miner

List of variants in gene KCNQ3 studied for Benign familial neonatal seizures 2

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Total variants: 20
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HGVS dbSNP
NM_004519.4(KCNQ3):c.1178T>C (p.Ile393Thr)
NM_004519.4(KCNQ3):c.1226C>G (p.Pro409Arg) rs149272208
NM_004519.4(KCNQ3):c.1241A>G (p.Glu414Gly) rs2303995
NM_004519.4(KCNQ3):c.1249_1250delinsAT (p.Glu417Met) rs1554625699
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.1885G>C (p.Val629Leu) rs185511111
NM_004519.4(KCNQ3):c.1994C>T (p.Ser665Leu) rs147173555
NM_004519.4(KCNQ3):c.2306C>A (p.Pro769His) rs114095081
NM_004519.4(KCNQ3):c.2454C>T (p.Phe818=) rs375379466
NM_004519.4(KCNQ3):c.2462A>G (p.Asn821Ser) rs118192254
NM_004519.4(KCNQ3):c.2611C>G (p.Pro871Ala) rs200647826
NM_004519.4(KCNQ3):c.2614A>G (p.Ile872Val) rs199682667
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.899T>C (p.Phe300Ser) rs1554627439
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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