ClinVar Miner

List of variants in gene DIAPH1 reported by Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center

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Gene type:
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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_005219.5(DIAPH1):c.3313C>T (p.Arg1105Trp) rs781577050 0.00011
NM_005219.5(DIAPH1):c.1838dup (p.Pro614fs) rs2154596304
NM_005219.5(DIAPH1):c.2108C>T (p.Pro703Leu) rs762356974
NM_005219.5(DIAPH1):c.3268dup (p.Met1090fs) rs1235751512
NM_005219.5(DIAPH1):c.946C>G (p.Gln316Glu) rs2154596450

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