List of variants in gene OTOG reported as likely pathogenic for autosomal recessive nonsyndromic hearing loss 18B

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_001292063.2(OTOG):c.2464C>T (p.Gln822Ter)	rs554847663	0.00040
NM_001292063.2(OTOG):c.7418del (p.Arg2473fs)	rs751369871	0.00007
NM_001292063.2(OTOG):c.3457C>T (p.Arg1153Ter)	rs772430523	0.00004
NM_001292063.2(OTOG):c.1666C>T (p.Gln556Ter)	rs530874854	0.00003
NM_001292063.2(OTOG):c.3682+1G>A	rs554063575	0.00001
NM_001277269.2(OTOG):c.7517-5_7518dup	rs1295062471
NM_001292063.2(OTOG):c.2561+1del	rs1852533572
NM_001292063.2(OTOG):c.5281_5284dup (p.Ser1762Ter)	rs2134090994
NM_001292063.2(OTOG):c.5438T>G (p.Val1813Gly)	rs1853512469
NM_001292063.2(OTOG):c.5926del (p.Gln1976fs)
NM_001292063.2(OTOG):c.7860G>A (p.Trp2620Ter)	rs1565129771
NM_001292063.2(OTOG):c.8632C>T (p.Arg2878Cys)
NM_001292063.2(OTOG):c.880del (p.Asp294fs)

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