ClinVar Miner

List of variants in gene KCNQ3 reported as uncertain significance for Inborn genetic diseases

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_004519.4(KCNQ3):c.1885G>C (p.Val629Leu) rs185511111 0.00016
NM_004519.4(KCNQ3):c.2491C>T (p.Arg831Trp) rs185628977 0.00006
NM_004519.4(KCNQ3):c.1000G>A (p.Ala334Thr) rs1381851622 0.00002
NM_004519.4(KCNQ3):c.2078C>T (p.Pro693Leu) rs755177673 0.00002
NM_004519.4(KCNQ3):c.1520C>G (p.Pro507Arg) rs370333805 0.00001
NM_004519.4(KCNQ3):c.1709T>C (p.Met570Thr) rs199999939 0.00001
NM_004519.4(KCNQ3):c.2506G>A (p.Gly836Ser) rs1245552106 0.00001
NM_004519.4(KCNQ3):c.387-3T>C rs199639193 0.00001
NM_004519.4(KCNQ3):c.73G>A (p.Ala25Thr) rs1280461599 0.00001
NM_004519.4(KCNQ3):c.107C>T (p.Ala36Val)
NM_004519.4(KCNQ3):c.1577A>G (p.Gln526Arg)
NM_004519.4(KCNQ3):c.1657G>A (p.Gly553Arg) rs1825159081
NM_004519.4(KCNQ3):c.1720C>A (p.Pro574Thr) rs74582884
NM_004519.4(KCNQ3):c.1884+3A>G
NM_004519.4(KCNQ3):c.1885G>T (p.Val629Phe) rs185511111
NM_004519.4(KCNQ3):c.1941G>A (p.Met647Ile) rs1227129126
NM_004519.4(KCNQ3):c.1946G>A (p.Arg649Gln)
NM_004519.4(KCNQ3):c.1970A>G (p.Tyr657Cys)
NM_004519.4(KCNQ3):c.2004A>C (p.Glu668Asp)
NM_004519.4(KCNQ3):c.2016GGA[1] (p.Glu673del) rs1824808776
NM_004519.4(KCNQ3):c.2023A>G (p.Asn675Asp)
NM_004519.4(KCNQ3):c.2035G>A (p.Asp679Asn) rs773672399
NM_004519.4(KCNQ3):c.2060A>G (p.Tyr687Cys)
NM_004519.4(KCNQ3):c.2093G>A (p.Ser698Asn) rs1824804011
NM_004519.4(KCNQ3):c.2239G>T (p.Val747Phe) rs1563761711
NM_004519.4(KCNQ3):c.2290G>C (p.Ala764Pro)
NM_004519.4(KCNQ3):c.2356A>G (p.Ser786Gly)
NM_004519.4(KCNQ3):c.2381C>T (p.Ser794Leu) rs267601778
NM_004519.4(KCNQ3):c.2392G>A (p.Glu798Lys)
NM_004519.4(KCNQ3):c.2440GAT[3] (p.Asp815_Tyr816insAsp)
NM_004519.4(KCNQ3):c.2607T>G (p.Asn869Lys)
NM_004519.4(KCNQ3):c.353C>G (p.Pro118Arg)
NM_004519.4(KCNQ3):c.38GCG[5] (p.Gly16dup) rs981093917
NM_004519.4(KCNQ3):c.38GCG[6] (p.Gly15_Gly16dup) rs981093917
NM_004519.4(KCNQ3):c.530C>A (p.Ala177Asp) rs2130176444
NM_004519.4(KCNQ3):c.547C>T (p.Arg183Ter)
NM_004519.4(KCNQ3):c.569G>A (p.Arg190Gln) rs796052674
NM_004519.4(KCNQ3):c.59G>A (p.Gly20Asp)
NM_004519.4(KCNQ3):c.889A>G (p.Lys297Glu) rs1826518706
NM_004519.4(KCNQ3):c.959G>A (p.Gly320Glu) rs1563787894
NM_004519.4(KCNQ3):c.98C>G (p.Ala33Gly) rs761196042

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