List of variants in gene OPTN reported as likely pathogenic for Primary open angle glaucoma; Amyotrophic lateral sclerosis type 12; Glaucoma 1, open angle, E

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_001008212.2(OPTN):c.1149-2A>G	rs867368757	0.00001
NM_001008212.2(OPTN):c.1670A>C (p.Lys557Thr)	rs1357375850	0.00001
NM_001008212.2(OPTN):c.626+1G>A	rs756957223	0.00001
NC_000010.10:g.(?_13152353)_(13162081_?)del
NC_000010.10:g.(?_13164365)_(13168059_?)dup
NM_001008212.2(OPTN):c.1401+1G>A	rs1370982012
NM_001008212.2(OPTN):c.370-1G>A	rs2131488754
NM_001008212.2(OPTN):c.780-1G>C	rs759311192
NM_001008212.2(OPTN):c.780-2A>C	rs768117011
NM_001008212.2(OPTN):c.882+2_882+3del	rs2539062305

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