ClinVar Miner

List of variants in gene KCNQ4 reported as uncertain significance by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_004700.4(KCNQ4):c.*7T>C rs537008263 0.00035
NM_004700.4(KCNQ4):c.1193A>G (p.Glu398Gly) rs773975779 0.00005
NM_004700.4(KCNQ4):c.1162C>T (p.Arg388Trp) rs371079509 0.00003
NM_004700.4(KCNQ4):c.1201C>T (p.Arg401Trp) rs754165873 0.00003
NM_004700.4(KCNQ4):c.682G>T (p.Gly228Cys) rs367890569 0.00003
NM_004700.4(KCNQ4):c.834G>T (p.Thr278=) rs766877660 0.00003
NM_004700.4(KCNQ4):c.832A>G (p.Thr278Ala) rs763326539 0.00002
NM_004700.4(KCNQ4):c.1216G>A (p.Asp406Asn) rs1264123218 0.00001
NM_004700.4(KCNQ4):c.1517C>T (p.Ala506Val) rs145732892 0.00001
NM_004700.4(KCNQ4):c.1531G>A (p.Val511Ile) rs778538229 0.00001
NM_004700.4(KCNQ4):c.2006A>G (p.His669Arg) rs749565877 0.00001
NM_004700.4(KCNQ4):c.386A>G (p.Asn129Ser) rs761034165 0.00001
NM_004700.4(KCNQ4):c.946-3T>A rs876657840 0.00001
NM_004700.4(KCNQ4):c.1017G>T (p.Arg339Ser) rs769086004
NM_004700.4(KCNQ4):c.1051C>T (p.Arg351Cys) rs1167593525
NM_004700.4(KCNQ4):c.1267A>C (p.Ser423Arg) rs368294870
NM_004700.4(KCNQ4):c.1283C>T (p.Pro428Leu) rs932108929
NM_004700.4(KCNQ4):c.1406A>G (p.Gln469Arg) rs1553168273
NM_004700.4(KCNQ4):c.1611C>G (p.Ile537Met) rs876657837
NM_004700.4(KCNQ4):c.1801G>T (p.Asp601Tyr) rs876657838
NM_004700.4(KCNQ4):c.1954C>G (p.Leu652Val) rs727505133
NM_004700.4(KCNQ4):c.1957G>A (p.Gly653Ser) rs876657839
NM_004700.4(KCNQ4):c.751T>C (p.Phe251Leu) rs1000705787
NM_004700.4(KCNQ4):c.803CCT[1] (p.Ser269del) rs797044966
NM_004700.4(KCNQ4):c.825G>C (p.Trp275Cys) rs956666801
NM_004700.4(KCNQ4):c.829G>A (p.Gly277Arg) rs727504459
NM_004700.4(KCNQ4):c.857A>G (p.Tyr286Cys) rs876657841

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