ClinVar Miner

List of variants in gene OTOF reported as pathogenic by Division of Hearing and Balance Research,National Hospital Organization Tokyo Medical Center

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Total variants: 7
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HGVS dbSNP
NM_194248.3(OTOF):c.*20G>A rs201326023
NM_194248.3(OTOF):c.1422T>A (p.Tyr474Ter) rs1403112959
NM_194248.3(OTOF):c.1621G>A (p.Gly541Ser) rs397515435
NM_194248.3(OTOF):c.1946_1965del (p.Arg649fs) rs1553353527
NM_194248.3(OTOF):c.5466C>G (p.Tyr1822Ter) rs753580324
NM_194248.3(OTOF):c.5992T>C (p.Ter1998Arg) rs1207102900
NM_194248.3(OTOF):c.897+5G>A rs1553356452

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