List of variants in gene OPTN reported as benign for anterior horn disorder

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: 18

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HGVS	dbSNP	gnomAD frequency
NM_001008212.2(OPTN):c.553-5C>T	rs2244380	0.80823
NM_001008212.2(OPTN):c.626+24G>A	rs11258211	0.03152
NM_001008212.2(OPTN):c.*269C>T	rs111484304	0.01294
NM_001008212.2(OPTN):c.627-10T>C	rs80327830	0.00853
NM_001008212.2(OPTN):c.964G>A (p.Glu322Lys)	rs523747	0.00719
NM_001008212.2(OPTN):c.963C>T (p.Ser321=)	rs150381274	0.00525
NM_001008212.2(OPTN):c.553-10G>A	rs11258210	0.00492
NM_001008212.2(OPTN):c.876G>A (p.Pro292=)	rs151065414	0.00118
NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln)	rs75654767	0.00101
NM_001008212.2(OPTN):c.779+20G>A	rs79733653	0.00095
NM_001008212.2(OPTN):c.1148+13A>G	rs368654623	0.00061
NM_001008212.2(OPTN):c.1612+10G>A	rs191671333	0.00053
NM_001008212.2(OPTN):c.777A>T (p.Glu259Asp)	rs532842754	0.00035
NM_001008212.2(OPTN):c.447G>A (p.Arg149=)	rs555741399	0.00001
NM_001008212.2(OPTN):c.1402-11del
NM_001008212.2(OPTN):c.1402-7C>T
NM_001008212.2(OPTN):c.402C>A (p.Ala134=)	rs113955718
NM_001008212.2(OPTN):c.964= (p.Glu322=)

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