ClinVar Miner

List of variants in gene DIAPH1 reported as pathogenic for Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_005219.5(DIAPH1):c.1549C>T (p.Gln517Ter) rs2099895754 0.00001
NM_005219.5(DIAPH1):c.3022C>T (p.Arg1008Ter) rs1461242879 0.00001
NC_000005.10:g.(?_141516831)_(141618934_?)del
NM_005219.5(DIAPH1):c.1016del (p.Met339fs) rs2154596448
NM_005219.5(DIAPH1):c.1051C>T (p.Arg351Ter)
NM_005219.5(DIAPH1):c.108dup (p.Lys37Ter) rs2154597562
NM_005219.5(DIAPH1):c.1483C>T (p.Arg495Ter)
NM_005219.5(DIAPH1):c.2100dup (p.Pro701fs) rs2154596284
NM_005219.5(DIAPH1):c.2108dup (p.Pro704fs) rs771360300
NM_005219.5(DIAPH1):c.2350_2351dup (p.Trp784fs)
NM_005219.5(DIAPH1):c.2540_2541del (p.Lys847fs) rs2099888710
NM_005219.5(DIAPH1):c.3166C>T (p.Gln1056Ter) rs1331356644
NM_005219.5(DIAPH1):c.3211_3212insAT (p.Arg1071fs)
NM_005219.5(DIAPH1):c.3268dup (p.Met1090fs) rs1235751512
NM_005219.5(DIAPH1):c.3637C>T (p.Arg1213Ter) rs876657776
NM_005219.5(DIAPH1):c.3661+1G>T rs1476157529
NM_005219.5(DIAPH1):c.626dup (p.Tyr209Ter)
NM_005219.5(DIAPH1):c.684+1G>A
NM_005219.5(DIAPH1):c.839del (p.Leu280fs)
NM_005219.5(DIAPH1):c.89del (p.Gly30fs)
NM_005219.5(DIAPH1):c.910dup (p.Ser304fs) rs2154596461

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