ClinVar Miner

List of variants in gene DIAPH3 studied for Auditory neuropathy, autosomal dominant, 1

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Total variants: 9
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HGVS dbSNP
DIAPH3, -172G-A
NM_001042517.2(DIAPH3):c.1342C>T (p.Arg448Ter)
NM_001042517.2(DIAPH3):c.1439C>G (p.Thr480Arg) rs766502252
NM_001042517.2(DIAPH3):c.1840C>A (p.Pro614Thr) rs200018583
NM_001042517.2(DIAPH3):c.2059del (p.Cys687fs)
NM_001042517.2(DIAPH3):c.2084_2088del (p.Glu695fs) rs749068924
NM_001042517.2(DIAPH3):c.2149T>C (p.Ser717Pro) rs191267920
NM_001042517.2(DIAPH3):c.3028-4_3028-3insGTAA rs10665848
NM_001042517.2(DIAPH3):c.357G>C (p.Glu119Asp)

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