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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_194323.3(OTOF):c.3515G>A (p.Arg1172Gln)	rs201326023	0.00003
NM_194248.3(OTOF):c.1621G>A (p.Gly541Ser)	rs397515435	0.00001
NM_194248.3(OTOF):c.1422T>A (p.Tyr474Ter)	rs1403112959
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.897+5G>A	rs1553356452
NM_194323.3(OTOF):c.3691T>C (p.Ter1231Arg)	rs1157997148

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