ClinVar Miner

List of variants in gene DIAPH1 studied for Nonsyndromic Hearing Loss, Mixed

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_005219.5(DIAPH1):c.1287G>C (p.Gln429His) rs748159908 0.00003
NM_005219.5(DIAPH1):c.*124_*126del rs554410556
NM_005219.5(DIAPH1):c.*1622TCC[1] rs202157915
NM_005219.5(DIAPH1):c.*1703AG[6] rs142402193
NM_005219.5(DIAPH1):c.*1765_*1766dup rs539203577
NM_005219.5(DIAPH1):c.*932dup rs550954506
NM_005219.5(DIAPH1):c.1821TCC[9] (p.Pro619_Pro620del) rs3075570
NM_005219.5(DIAPH1):c.402+12del rs555848272

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