List of variants in gene OTOF reported as likely pathogenic for autosomal recessive nonsyndromic hearing loss 9

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: 28

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HGVS	dbSNP	gnomAD frequency
NM_194248.3(OTOF):c.5332G>T (p.Val1778Phe)	rs111033330	0.00013
NM_194248.3(OTOF):c.4227+1G>T	rs397515601	0.00009
NM_194248.3(OTOF):c.149G>A (p.Trp50Ter)	rs202086317	0.00004
NM_194248.3(OTOF):c.4718T>C (p.Ile1573Thr)	rs111033405	0.00002
NM_194248.3(OTOF):c.4747C>T (p.Arg1583Cys)	rs781688103	0.00002
NM_194248.3(OTOF):c.5375G>A (p.Arg1792His)	rs111033349	0.00001
NM_194248.3(OTOF):c.1172del (p.Lys391fs)	rs483353050
NM_194248.3(OTOF):c.1432T>C (p.Trp478Arg)
NM_194248.3(OTOF):c.1804-2A>G	rs2148056311
NM_194248.3(OTOF):c.1912+5G>C	rs2148056188
NM_194248.3(OTOF):c.2214+5G>C
NM_194248.3(OTOF):c.2215-1G>C
NM_194248.3(OTOF):c.2610_2615dup (p.Leu870_Leu871dup)	rs2148050495
NM_194248.3(OTOF):c.2656del (p.Val886fs)
NM_194248.3(OTOF):c.3179_3183dup (p.Glu1062fs)	rs773708510
NM_194248.3(OTOF):c.3409-2A>C	rs201613240
NM_194248.3(OTOF):c.3674C>G (p.Ser1225Cys)
NM_194248.3(OTOF):c.4490_4491del (p.Tyr1497fs)	rs1558472243
NM_194248.3(OTOF):c.4493T>A (p.Val1498Glu)
NM_194248.3(OTOF):c.4748G>A (p.Arg1583His)
NM_194248.3(OTOF):c.4903A>T (p.Arg1635Ter)
NM_194248.3(OTOF):c.5360G>A (p.Gly1787Asp)	rs2148020419
NM_194248.3(OTOF):c.5534-2A>G	rs1664440809
NM_194248.3(OTOF):c.5570G>A (p.Gly1857Asp)	rs2148018483
NM_194248.3(OTOF):c.5800dup (p.Leu1934fs)	rs397515609
NM_194248.3(OTOF):c.669del (p.Ala224fs)	rs2148078546
NM_194248.3(OTOF):c.764A>C (p.Gln255Pro)
NM_194248.3(OTOF):c.897+1G>T	rs483353049

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