List of variants reported as likely benign for optic atrophy

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 187

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HGVS	dbSNP	gnomAD frequency
NM_012062.5(DNM1L):c.741-19G>A	rs79520527	0.00897
NM_130837.3(OPA1):c.2961C>T (p.Arg987=)	rs35540805	0.00758
NM_130837.3(OPA1):c.2049A>G (p.Val683=)	rs73069703	0.00753
NM_025136.4(OPA3):c.*2696C>G	rs148705681	0.00585
NM_032273.4(TMEM126A):c.314G>A (p.Arg105Gln)	rs146573578	0.00247
NM_032273.4(TMEM126A):c.562T>A (p.Ser188Thr)	rs34397695	0.00240
NM_032273.4(TMEM126A):c.154A>G (p.Ser52Gly)	rs140047528	0.00239
NM_001017989.3(OPA3):c.184G>A (p.Gly62Ser)	rs140959406	0.00223
NM_032273.4(TMEM126A):c.96T>G (p.Leu32=)	rs36100288	0.00220
NM_130837.3(OPA1):c.1236A>G (p.Ala412=)	rs150807064	0.00179
NM_032273.4(TMEM126A):c.191G>A (p.Arg64His)	rs11556797	0.00161
NM_025136.4(OPA3):c.478C>T (p.Arg160Cys)	rs137978109	0.00135
NM_152296.5(ATP1A3):c.357C>T (p.Asn119=)	rs143547136	0.00108
NM_025136.4(OPA3):c.249G>C (p.Leu83=)	rs199692583	0.00080
NM_152296.5(ATP1A3):c.192G>A (p.Arg64=)	rs146053862	0.00061
NM_001098.3(ACO2):c.1038G>A (p.Lys346=)	rs144269243	0.00055
NM_130837.3(OPA1):c.32+14C>T	rs201927764	0.00054
NM_032273.4(TMEM126A):c.280+14C>T	rs117453673	0.00039
NM_025136.4(OPA3):c.143-7C>T	rs375551151	0.00036
NM_025136.4(OPA3):c.143-14C>T	rs368939051	0.00034
NM_152296.5(ATP1A3):c.1503C>T (p.Pro501=)	rs143904999	0.00027
NM_130837.3(OPA1):c.653C>T (p.Ser218Phe)	rs200243596	0.00022
NM_130837.3(OPA1):c.2506C>T (p.Arg836Trp)	rs190235251	0.00017
NM_130837.3(OPA1):c.70A>G (p.Ile24Val)	rs201520438	0.00017
NC_000019.10:g.45529183T>A	rs201888844	0.00016
NM_025136.4(OPA3):c.33G>T (p.Leu11=)	rs148805518	0.00016
NM_130837.3(OPA1):c.530G>T (p.Ser177Ile)	rs150279202	0.00016
NM_152296.5(ATP1A3):c.2419-7C>T	rs187436315	0.00016
NC_000019.10:g.45529193A>G	rs535476484	0.00008
NM_001098.3(ACO2):c.941-19C>T	rs375652573	0.00007
NM_152296.5(ATP1A3):c.1368C>T (p.Ser456=)	rs782325595	0.00006
NM_130837.3(OPA1):c.2331+10T>C	rs371096629	0.00005
NM_025136.4(OPA3):c.303C>T (p.Tyr101=)	rs752010426	0.00004
NM_130837.3(OPA1):c.339C>T (p.Tyr113=)	rs779836454	0.00004
NM_130837.3(OPA1):c.617C>T (p.Pro206Leu)	rs772090345	0.00004
NM_025136.4(OPA3):c.39C>T (p.Tyr13=)	rs374843726	0.00003
NM_152296.5(ATP1A3):c.2418+18C>T	rs369674143	0.00003
NM_025136.4(OPA3):c.142+16A>G	rs1969904812	0.00002
NM_025136.4(OPA3):c.15G>C (p.Ala5=)	rs763315476	0.00002
NM_025136.4(OPA3):c.333G>A (p.Lys111=)	rs761583193	0.00002
NM_025136.4(OPA3):c.336G>A (p.Glu112=)	rs146349367	0.00002
NM_025136.4(OPA3):c.351T>C (p.Ala117=)	rs760489108	0.00002
NM_025136.4(OPA3):c.519A>G (p.Ala173=)	rs1200579847	0.00002
NM_025136.4(OPA3):c.528G>A (p.Ala176=)	rs752240099	0.00002
NM_025136.4(OPA3):c.540G>A (p.Ter180=)	rs774281852	0.00002
NM_130837.3(OPA1):c.1286G>A (p.Gly429Asp)	rs146003075	0.00002
NM_152296.5(ATP1A3):c.2819+12G>A	rs782653272	0.00002
NC_000019.10:g.45529065G>A	rs1162879805	0.00001
NM_025136.4(OPA3):c.120T>C (p.Tyr40=)	rs752657560	0.00001
NM_025136.4(OPA3):c.142+10A>T	rs539476253	0.00001
NM_025136.4(OPA3):c.143-6C>T	rs760030315	0.00001
NM_025136.4(OPA3):c.143-9C>G	rs1342185871	0.00001
NM_025136.4(OPA3):c.222G>A (p.Glu74=)	rs1241138154	0.00001
NM_025136.4(OPA3):c.237G>C (p.Leu79=)	rs943536843	0.00001
NM_025136.4(OPA3):c.252G>A (p.Leu84=)	rs757297634	0.00001
NM_025136.4(OPA3):c.255C>T (p.Gly85=)	rs951025429	0.00001
NM_025136.4(OPA3):c.354C>T (p.Ala118=)	rs745763712	0.00001
NM_025136.4(OPA3):c.381C>T (p.Gly127=)	rs1405668670	0.00001
NM_025136.4(OPA3):c.426G>A (p.Ala142=)	rs1289276507	0.00001
NM_025136.4(OPA3):c.441C>G (p.Gly147=)	rs1049255184	0.00001
NM_025136.4(OPA3):c.444C>T (p.Ala148=)	rs759536853	0.00001
NM_025136.4(OPA3):c.453A>G (p.Glu151=)	rs1338422249	0.00001
NM_025136.4(OPA3):c.78T>C (p.Arg26=)	rs1372988634	0.00001
NM_025136.4(OPA3):c.87G>A (p.Glu29=)	rs1194417590	0.00001
NM_152296.5(ATP1A3):c.1218C>T (p.His406=)	rs1238469762	0.00001
NM_152296.5(ATP1A3):c.384C>G (p.Ala128=)	rs782662538	0.00001
NC_000019.10:g.45529185C>T	rs566450630
NM_001098.3(ACO2):c.1387G>T (p.Gly463Trp)	rs2006715
NM_012062.5(DNM1L):c.1885-15del	rs863223951
NM_025136.4(OPA3):c.111C>T (p.Phe37=)
NM_025136.4(OPA3):c.117C>T (p.Thr39=)
NM_025136.4(OPA3):c.123C>T (p.Ile41=)
NM_025136.4(OPA3):c.12C>T (p.Gly4=)
NM_025136.4(OPA3):c.132G>C (p.Pro44=)
NM_025136.4(OPA3):c.135G>A (p.Pro45=)	rs553414785
NM_025136.4(OPA3):c.135G>C (p.Pro45=)
NM_025136.4(OPA3):c.142+10A>C	rs539476253
NM_025136.4(OPA3):c.142+11C>T
NM_025136.4(OPA3):c.142+12C>A
NM_025136.4(OPA3):c.142+13C>A
NM_025136.4(OPA3):c.142+13C>G
NM_025136.4(OPA3):c.142+13C>T
NM_025136.4(OPA3):c.142+17T>A
NM_025136.4(OPA3):c.142+18T>C	rs1969904773
NM_025136.4(OPA3):c.142+20C>T
NM_025136.4(OPA3):c.142+9G>A
NM_025136.4(OPA3):c.142+9G>C
NM_025136.4(OPA3):c.143-12C>G
NM_025136.4(OPA3):c.143-12C>T
NM_025136.4(OPA3):c.143-13T>G	rs1278896715
NM_025136.4(OPA3):c.143-16C>A
NM_025136.4(OPA3):c.143-16C>G
NM_025136.4(OPA3):c.143-16CT[2]
NM_025136.4(OPA3):c.143-17C>T
NM_025136.4(OPA3):c.143-4G>T
NM_025136.4(OPA3):c.143-5C>T	rs770452409
NM_025136.4(OPA3):c.143-8C>T	rs1315898626
NM_025136.4(OPA3):c.143-9C>A
NM_025136.4(OPA3):c.144G>A (p.Leu48=)	rs2122440942
NM_025136.4(OPA3):c.15G>A (p.Ala5=)
NM_025136.4(OPA3):c.165G>T (p.Arg55=)
NM_025136.4(OPA3):c.168C>T (p.Thr56=)
NM_025136.4(OPA3):c.18C>T (p.Phe6=)
NM_025136.4(OPA3):c.195C>A (p.Gly65=)
NM_025136.4(OPA3):c.198G>A (p.Thr66=)
NM_025136.4(OPA3):c.201C>T (p.Val67=)	rs539986269
NM_025136.4(OPA3):c.204C>A (p.Ile68=)
NM_025136.4(OPA3):c.210G>A (p.Pro70=)
NM_025136.4(OPA3):c.213G>A (p.Leu71=)	rs1258779986
NM_025136.4(OPA3):c.216C>T (p.Asn72=)	rs772750356
NM_025136.4(OPA3):c.21T>A (p.Pro7=)
NM_025136.4(OPA3):c.225G>A (p.Ala75=)
NM_025136.4(OPA3):c.228A>T (p.Ala76=)
NM_025136.4(OPA3):c.235C>T (p.Leu79=)	rs886037828
NM_025136.4(OPA3):c.237G>A (p.Leu79=)	rs943536843
NM_025136.4(OPA3):c.237G>T (p.Leu79=)
NM_025136.4(OPA3):c.240C>T (p.Gly80=)
NM_025136.4(OPA3):c.246G>A (p.Glu82=)	rs1599964759
NM_025136.4(OPA3):c.247C>T (p.Leu83=)
NM_025136.4(OPA3):c.250C>T (p.Leu84=)
NM_025136.4(OPA3):c.252G>T (p.Leu84=)
NM_025136.4(OPA3):c.255C>G (p.Gly85=)	rs951025429
NM_025136.4(OPA3):c.273C>T (p.Ile91=)	rs369545089
NM_025136.4(OPA3):c.279C>T (p.Gly93=)	rs1165747962
NM_025136.4(OPA3):c.27G>A (p.Ala9=)
NM_025136.4(OPA3):c.282C>A (p.Gly94=)
NM_025136.4(OPA3):c.282C>T (p.Gly94=)	rs1478895044
NM_025136.4(OPA3):c.288C>T (p.Cys96=)
NM_025136.4(OPA3):c.289C>T (p.Leu97=)	rs755295420
NM_025136.4(OPA3):c.291A>G (p.Leu97=)	rs755689286
NM_025136.4(OPA3):c.30G>A (p.Lys10=)	rs1131692018
NM_025136.4(OPA3):c.318G>T (p.Ala106=)	rs867188673
NM_025136.4(OPA3):c.327C>G (p.Arg109=)	rs2122439641
NM_025136.4(OPA3):c.33G>A (p.Leu11=)	rs148805518
NM_025136.4(OPA3):c.342G>A (p.Glu114=)
NM_025136.4(OPA3):c.360C>T (p.Asn120=)
NM_025136.4(OPA3):c.363G>A (p.Ala121=)	rs1371810069
NM_025136.4(OPA3):c.363G>C (p.Ala121=)	rs1371810069
NM_025136.4(OPA3):c.363G>T (p.Ala121=)	rs1371810069
NM_025136.4(OPA3):c.364C>T (p.Leu122=)
NM_025136.4(OPA3):c.367C>A (p.Arg123=)	rs1022155897
NM_025136.4(OPA3):c.390G>A (p.Ala130=)	rs2122439205
NM_025136.4(OPA3):c.393G>A (p.Leu131=)
NM_025136.4(OPA3):c.397C>T (p.Leu133=)	rs2122439146
NM_025136.4(OPA3):c.405G>A (p.Ala135=)	rs750848548
NM_025136.4(OPA3):c.40T>C (p.Leu14=)	rs2122529532
NM_025136.4(OPA3):c.414G>A (p.Ala138=)	rs1969373306
NM_025136.4(OPA3):c.414G>T (p.Ala138=)
NM_025136.4(OPA3):c.417G>A (p.Gln139=)	rs2122438987
NM_025136.4(OPA3):c.429G>A (p.Ala143=)	rs745373208
NM_025136.4(OPA3):c.435A>G (p.Pro145=)
NM_025136.4(OPA3):c.444C>G (p.Ala148=)	rs759536853
NM_025136.4(OPA3):c.445C>T (p.Leu149=)	rs1057523113
NM_025136.4(OPA3):c.456G>A (p.Leu152=)
NM_025136.4(OPA3):c.456G>T (p.Leu152=)
NM_025136.4(OPA3):c.45C>T (p.Gly15=)
NM_025136.4(OPA3):c.462A>C (p.Thr154=)	rs2122438569
NM_025136.4(OPA3):c.462A>G (p.Thr154=)
NM_025136.4(OPA3):c.468G>C (p.Leu156=)	rs2122438534
NM_025136.4(OPA3):c.471A>G (p.Gln157=)
NM_025136.4(OPA3):c.474G>A (p.Glu158=)	rs1969371102
NM_025136.4(OPA3):c.477G>C (p.Val159=)
NM_025136.4(OPA3):c.477G>T (p.Val159=)
NM_025136.4(OPA3):c.483C>G (p.Ala161=)	rs2122438328
NM_025136.4(OPA3):c.489C>T (p.Leu163=)
NM_025136.4(OPA3):c.501C>T (p.Gly167=)
NM_025136.4(OPA3):c.504G>A (p.Arg168=)
NM_025136.4(OPA3):c.504G>T (p.Arg168=)
NM_025136.4(OPA3):c.507C>G (p.Ser169=)	rs757829968
NM_025136.4(OPA3):c.513C>T (p.Ser171=)
NM_025136.4(OPA3):c.516C>T (p.His172=)	rs1427115632
NM_025136.4(OPA3):c.522G>A (p.Val174=)	rs1969369481
NM_025136.4(OPA3):c.531C>T (p.Ser177=)	rs2122437966
NM_025136.4(OPA3):c.57C>T (p.Val19=)	rs1600010212
NM_025136.4(OPA3):c.66G>T (p.Pro22=)	rs1969906893
NM_025136.4(OPA3):c.6G>A (p.Val2=)	rs2122529689
NM_025136.4(OPA3):c.6G>C (p.Val2=)	rs2122529689
NM_025136.4(OPA3):c.72C>T (p.Ala24=)	rs1305459152
NM_025136.4(OPA3):c.75C>T (p.Asn25=)	rs2122529407
NM_025136.4(OPA3):c.84G>A (p.Lys28=)
NM_025136.4(OPA3):c.90C>A (p.Ala30=)	rs1600010139
NM_025136.4(OPA3):c.99A>G (p.Arg33=)
NM_130837.3(OPA1):c.1017G>A (p.Thr339=)	rs758922394
NM_130837.3(OPA1):c.1737G>C (p.Gln579His)	rs538099724
NM_130837.3(OPA1):c.544T>C (p.Phe182Leu)	rs769335936
NM_152296.5(ATP1A3):c.1839G>C (p.Thr613=)	rs376852509
NM_152296.5(ATP1A3):c.808G>A (p.Gly270Ser)

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