ClinVar Miner

List of variants in gene KCNQ5 reported as uncertain significance for Inborn genetic diseases

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_019842.4(KCNQ5):c.1312C>G (p.Arg438Gly) rs750114221 0.00004
NM_019842.4(KCNQ5):c.526A>G (p.Ile176Val) rs372989351 0.00003
NM_019842.4(KCNQ5):c.2744G>A (p.Cys915Tyr) rs750348449 0.00002
NM_019842.4(KCNQ5):c.1270C>T (p.Arg424Ter) rs1554213240 0.00001
NM_019842.4(KCNQ5):c.1313G>A (p.Arg438Gln) rs763365816 0.00001
NM_019842.4(KCNQ5):c.1332C>G (p.Asp444Glu) rs377437433 0.00001
NM_019842.4(KCNQ5):c.1421G>A (p.Arg474Gln) rs1776330794 0.00001
NM_019842.4(KCNQ5):c.1429C>A (p.Leu477Met) rs1050089695 0.00001
NM_019842.4(KCNQ5):c.2410A>G (p.Met804Val) rs776130193 0.00001
NM_019842.4(KCNQ5):c.472A>G (p.Ser158Gly) rs906151575 0.00001
NM_019842.4(KCNQ5):c.596G>A (p.Arg199Gln) rs759489014 0.00001
NM_019842.4(KCNQ5):c.1248-3581G>T rs774233700
NM_019842.4(KCNQ5):c.1248-3612A>G
NM_019842.4(KCNQ5):c.1282G>A (p.Ala428Thr) rs775391904
NM_019842.4(KCNQ5):c.1472A>T (p.Asp491Val) rs2533866757
NM_019842.4(KCNQ5):c.1496T>G (p.Val499Gly) rs946663074
NM_019842.4(KCNQ5):c.1499A>G (p.Tyr500Cys) rs2533866902
NM_019842.4(KCNQ5):c.1525G>A (p.Val509Ile) rs2533867067
NM_019842.4(KCNQ5):c.1706C>T (p.Thr569Ile) rs372290252
NM_019842.4(KCNQ5):c.1790C>T (p.Thr597Ile) rs1018524164
NM_019842.4(KCNQ5):c.1813C>T (p.Arg605Trp) rs1377270622
NM_019842.4(KCNQ5):c.1894C>T (p.Arg632Trp) rs148226356
NM_019842.4(KCNQ5):c.2033G>T (p.Arg678Ile) rs1444813030
NM_019842.4(KCNQ5):c.2056A>G (p.Arg686Gly)
NM_019842.4(KCNQ5):c.2294C>A (p.Thr765Asn) rs1167542831
NM_019842.4(KCNQ5):c.2447T>G (p.Leu816Trp)
NM_019842.4(KCNQ5):c.2547T>G (p.Ser849Arg)
NM_019842.4(KCNQ5):c.2594G>A (p.Arg865Lys) rs1178111863
NM_019842.4(KCNQ5):c.2614A>G (p.Thr872Ala) rs2533933088
NM_019842.4(KCNQ5):c.476G>T (p.Cys159Phe)
NM_019842.4(KCNQ5):c.587G>A (p.Arg196Lys) rs766233639
NM_019842.4(KCNQ5):c.592G>T (p.Ala198Ser)
NM_019842.4(KCNQ5):c.782C>T (p.Ala261Val) rs749433096
NM_019842.4(KCNQ5):c.871G>A (p.Ala291Thr) rs768043126

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