List of variants in gene OTOG reported as likely pathogenic by GeneDx

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: 14

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HGVS	dbSNP	gnomAD frequency
NM_001292063.2(OTOG):c.2080+5G>C	rs765790706	0.00012
NM_001292063.2(OTOG):c.6712G>A (p.Gly2238Ser)	rs763848795	0.00004
NM_001292063.2(OTOG):c.7417C>T (p.Arg2473Ter)	rs866476223	0.00002
NM_001292063.2(OTOG):c.4657G>T (p.Gly1553Ter)	rs897822685	0.00001
NM_001292063.2(OTOG):c.6523C>T (p.Arg2175Ter)	rs397514608	0.00001
NM_001292063.2(OTOG):c.1005C>G (p.Tyr335Ter)	rs577674003
NM_001292063.2(OTOG):c.2453_2454insACTGGACACCCA (p.Tyr818Ter)	rs876657656
NM_001292063.2(OTOG):c.2561+1del	rs1852533572
NM_001292063.2(OTOG):c.4145T>C (p.Phe1382Ser)
NM_001292063.2(OTOG):c.4279G>T (p.Glu1427Ter)	rs769161471
NM_001292063.2(OTOG):c.4985del (p.Gly1662fs)	rs1565116526
NM_001292063.2(OTOG):c.499del (p.Val167fs)	rs876657657
NM_001292063.2(OTOG):c.7353dup (p.Ala2452fs)	rs1157646266
NM_001292063.2(OTOG):c.7489C>T (p.Gln2497Ter)	rs2133709057

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