List of variants in gene OPA1 reported as benign for Autosomal dominant optic atrophy classic form

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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: 40

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HGVS	dbSNP	gnomAD frequency
NM_130837.3(OPA1):c.*560T>C	rs7643844	1.00000
NM_130837.3(OPA1):c.1035+4T>C	rs166850	0.88312
NM_130837.3(OPA1):c.*1343A>G	rs1056366	0.65902
NM_130837.3(OPA1):c.*283A>G	rs1061648	0.61636
NM_130837.3(OPA1):c.*1113C>T	rs12630	0.54101
NM_130837.3(OPA1):c.473G>A (p.Ser158Asn)	rs7624750	0.50224
NM_130837.3(OPA1):c.2274T>C (p.Ala758=)	rs9851685	0.50117
NM_130837.3(OPA1):c.*2092C>T	rs1056390	0.46950
NM_130837.3(OPA1):c.*2391T>C	rs11719309	0.46275
NM_130837.3(OPA1):c.*2344A>G	rs1056392	0.35025
NM_130837.3(OPA1):c.*2873A>T	rs10419	0.10485
NM_130837.3(OPA1):c.*3027A>G	rs56329083	0.06796
NM_130837.3(OPA1):c.2778+11C>G	rs111688935	0.03759
NM_130837.3(OPA1):c.629C>T (p.Ala210Val)	rs34307082	0.02411
NM_130837.3(OPA1):c.*2286T>C	rs115575058	0.02395
NM_130837.3(OPA1):c.*2408A>G	rs73069788	0.00927
NM_130837.3(OPA1):c.2973G>A (p.Ala991=)	rs117475774	0.00742
NM_130837.3(OPA1):c.*623G>A	rs146468889	0.00661
NM_130837.3(OPA1):c.*1031A>T	rs114606850	0.00619
NM_130837.3(OPA1):c.420G>T (p.Val140=)	rs35801538	0.00577
NM_130837.3(OPA1):c.*220A>G	rs76421015	0.00396
NM_130837.3(OPA1):c.43C>A (p.Gln15Lys)	rs75414918	0.00304
NM_130837.3(OPA1):c.*376A>G	rs142349183	0.00285
NM_130837.3(OPA1):c.1342A>C (p.Arg448=)	rs149752576	0.00229
NM_130837.3(OPA1):c.321G>A (p.Ser107=)	rs117888848	0.00212
NM_130837.3(OPA1):c.*2993C>A	rs143991575	0.00127
NM_015560.2(OPA1):c.-172T>A	rs146295726	0.00122
NM_130837.3(OPA1):c.239A>G (p.Tyr80Cys)	rs151103940	0.00116
NM_130837.3(OPA1):c.2880A>G (p.Arg960=)	rs144898877	0.00107
NM_130837.3(OPA1):c.949-11A>C	rs376681712	0.00089
NM_130837.3(OPA1):c.254G>A (p.Arg85His)	rs35630194	0.00068
NM_130837.3(OPA1):c.1302T>G (p.Pro434=)	rs139861334	0.00050
NM_130837.3(OPA1):c.*1425G>A	rs117826024	0.00049
NM_130837.3(OPA1):c.2984-4A>G	rs184273607	0.00042
NM_130837.3(OPA1):c.*2115G>A	rs144079165	0.00034
NM_130837.3(OPA1):c.2088G>A (p.Ala696=)	rs138114609	0.00028
NM_130837.3(OPA1):c.678+13G>C	rs561115644	0.00010
NM_130837.3(OPA1):c.253C>T (p.Arg85Cys)	rs372435892	0.00004
NM_130837.3(OPA1):c.*228A>G	rs577816325	0.00001
NM_130837.3(OPA1):c.*1610C>A	rs73069785

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