List of variants in gene OTOF reported as pathogenic for Nonsyndromic genetic hearing loss

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: 10

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HGVS	dbSNP	gnomAD frequency
NM_194248.3(OTOF):c.2485C>T (p.Gln829Ter)	rs80356593	0.00004
NM_194248.3(OTOF):c.4718T>C (p.Ile1573Thr)	rs111033405	0.00002
NM_194248.3(OTOF):c.1621G>A (p.Gly541Ser)	rs397515435	0.00001
NM_194248.3(OTOF):c.5375G>A (p.Arg1792His)	rs111033349	0.00001
NM_194248.3(OTOF):c.5567G>A (p.Arg1856Gln)	rs397515608	0.00001
NM_194248.3(OTOF):c.1469C>G (p.Pro490Arg)	rs80356585
NM_194248.3(OTOF):c.2122C>T (p.Arg708Ter)	rs80356590
NM_194248.3(OTOF):c.2348del (p.Gly783fs)	rs80356591
NM_194248.3(OTOF):c.2962TTC[1] (p.Phe989del)	rs1423777622
NM_194248.3(OTOF):c.4491T>A (p.Tyr1497Ter)	rs80356600

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