ClinVar Miner

List of variants reported as pathogenic for Autosomal dominant nonsyndromic deafness 2A by ClinVar Staff, National Center for Biotechnology Information (NCBI)

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Total variants: 17
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HGVS dbSNP
NM_004700.4(KCNQ4):c.1044_1051del (p.Ala349Profs) rs797044972
NM_004700.4(KCNQ4):c.2039C>T (p.Ser680Phe) rs772135867
NM_004700.4(KCNQ4):c.228_229dup (p.His77fs) rs1553165199
NM_004700.4(KCNQ4):c.546C>G (p.Phe182Leu) rs80358273
NM_004700.4(KCNQ4):c.689T>A (p.Val230Glu) rs797044965
NM_004700.4(KCNQ4):c.778G>A (p.Glu260Lys) rs80358274
NM_004700.4(KCNQ4):c.785A>T (p.Asp262Val) rs80358275
NM_004700.4(KCNQ4):c.803CCT[1] (p.Ser269del) rs797044966
NM_004700.4(KCNQ4):c.808T>C (p.Tyr270His) rs797044967
NM_004700.4(KCNQ4):c.821T>A (p.Leu274His) rs80358276
NM_004700.4(KCNQ4):c.823T>C (p.Trp275Arg) rs797044968
NM_004700.4(KCNQ4):c.842T>C (p.Leu281Ser) rs80358278
NM_004700.4(KCNQ4):c.871C>T (p.Pro291Ser) rs797044969
NM_004700.4(KCNQ4):c.872C>T (p.Pro291Leu) rs797044970
NM_004700.4(KCNQ4):c.886G>A (p.Gly296Ser) rs80358279
NM_004700.4(KCNQ4):c.891G>T (p.Arg297Ser) rs797044971
NM_004700.4(KCNQ4):c.961G>A (p.Gly321Ser) rs28939710

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