ClinVar Miner

List of variants studied for optic atrophy by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (52):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 274
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_025136.4(OPA3):c.231T>C (p.Ala77=) rs3826860 0.70508
NM_025136.4(OPA3):c.412G>A (p.Ala138Thr) rs201574732 0.00477
NM_001017989.3(OPA3):c.184G>A (p.Gly62Ser) rs140959406 0.00223
NM_025136.4(OPA3):c.537A>G (p.Lys179=) rs140105522 0.00158
NM_025136.4(OPA3):c.478C>T (p.Arg160Cys) rs137978109 0.00135
NM_025136.4(OPA3):c.249G>C (p.Leu83=) rs199692583 0.00080
NM_025136.4(OPA3):c.143-7C>T rs375551151 0.00036
NM_025136.4(OPA3):c.143-14C>T rs368939051 0.00034
NC_000019.10:g.45529113G>A rs201078416 0.00022
NC_000019.10:g.45529183T>A rs201888844 0.00016
NM_025136.4(OPA3):c.33G>T (p.Leu11=) rs148805518 0.00016
NC_000019.10:g.45529193A>G rs535476484 0.00008
NM_025136.4(OPA3):c.428C>T (p.Ala143Val) rs553598004 0.00006
NM_025136.4(OPA3):c.303C>T (p.Tyr101=) rs752010426 0.00004
NM_025136.4(OPA3):c.372C>A (p.Asp124Glu) rs755348694 0.00004
NM_025136.4(OPA3):c.143-5C>A rs770452409 0.00003
NM_025136.4(OPA3):c.39C>T (p.Tyr13=) rs374843726 0.00003
NM_025136.4(OPA3):c.526G>A (p.Ala176Thr) rs755841329 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.241G>A (p.Ala81Thr) rs186796646 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
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.123C>G (p.Ile41Met) rs763083098 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.197C>T (p.Thr66Met) rs753129998 0.00001
NM_025136.4(OPA3):c.222G>A (p.Glu74=) rs1241138154 0.00001
NM_025136.4(OPA3):c.224C>T (p.Ala75Val) rs769541845 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.305_322dup (p.Gln107_Gln108insArgArgHisGlnAlaGln) rs1599964564 0.00001
NM_025136.4(OPA3):c.354C>T (p.Ala118=) rs745763712 0.00001
NM_025136.4(OPA3):c.355T>A (p.Trp119Arg) rs375471439 0.00001
NM_025136.4(OPA3):c.373G>A (p.Glu125Lys) rs1346674058 0.00001
NM_025136.4(OPA3):c.381C>T (p.Gly127=) rs1405668670 0.00001
NM_025136.4(OPA3):c.404C>G (p.Ala135Gly) rs372640359 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.487C>T (p.Leu163Phe) rs780492515 0.00001
NM_025136.4(OPA3):c.499G>C (p.Gly167Arg) rs1364874488 0.00001
NM_025136.4(OPA3):c.503G>A (p.Arg168Gln) rs779505447 0.00001
NM_025136.4(OPA3):c.508G>A (p.Ala170Thr) rs374639297 0.00001
NM_025136.4(OPA3):c.52C>T (p.Gln18Ter) rs1568413644 0.00001
NM_025136.4(OPA3):c.540G>C (p.Ter180Tyr) rs774281852 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
NC_000019.10:g.(?_45584613)_(45584774_?)del
NC_000019.10:g.45529185C>T rs566450630
NC_000019.9:g.(?_46056772)_(46057189_?)del
NC_000019.9:g.(?_46056772)_(46088022_?)del
NM_001017989.3(OPA3):c.464_467dup (p.Gln157fs) rs1599947052
NM_025136.4(OPA3):c.103G>T (p.Glu35Ter)
NM_025136.4(OPA3):c.111C>T (p.Phe37=)
NM_025136.4(OPA3):c.115A>G (p.Thr39Ala)
NM_025136.4(OPA3):c.117C>T (p.Thr39=)
NM_025136.4(OPA3):c.121A>G (p.Ile41Val)
NM_025136.4(OPA3):c.123C>T (p.Ile41=)
NM_025136.4(OPA3):c.127C>G (p.Leu43Val) rs2122529195
NM_025136.4(OPA3):c.12C>T (p.Gly4=)
NM_025136.4(OPA3):c.131C>T (p.Pro44Leu) rs2122529178
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.136G>A (p.Ala46Thr)
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+2_142+3dup rs1555736791
NM_025136.4(OPA3):c.142+3_142+6del
NM_025136.4(OPA3):c.142+4A>T rs765495449
NM_025136.4(OPA3):c.142+5G>C rs1250409781
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.143-1G>A
NM_025136.4(OPA3):c.143-1G>C rs80356523
NM_025136.4(OPA3):c.143-2_143-1delinsCC rs1969382362
NM_025136.4(OPA3):c.143-4G>T
NM_025136.4(OPA3):c.143-5C>T rs770452409
NM_025136.4(OPA3):c.143-5dup
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.145T>C (p.Tyr49His) rs1384629048
NM_025136.4(OPA3):c.152G>A (p.Trp51Ter)
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.170A>G (p.Lys57Arg)
NM_025136.4(OPA3):c.17T>C (p.Phe6Ser) rs2122529643
NM_025136.4(OPA3):c.182T>C (p.Met61Thr) rs1052079541
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.1A>G (p.Met1Val) rs1230629432
NM_025136.4(OPA3):c.201C>T (p.Val67=) rs539986269
NM_025136.4(OPA3):c.201del (p.Ile68fs)
NM_025136.4(OPA3):c.204C>A (p.Ile68=)
NM_025136.4(OPA3):c.206A>C (p.Lys69Thr) rs760083523
NM_025136.4(OPA3):c.206_258del (p.Lys69fs) rs2122440115
NM_025136.4(OPA3):c.210G>A (p.Pro70=)
NM_025136.4(OPA3):c.212T>C (p.Leu71Pro)
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.217dup (p.Glu73fs) rs1555732963
NM_025136.4(OPA3):c.21T>A (p.Pro7=)
NM_025136.4(OPA3):c.220G>A (p.Glu74Lys)
NM_025136.4(OPA3):c.220G>T (p.Glu74Ter)
NM_025136.4(OPA3):c.225G>A (p.Ala75=)
NM_025136.4(OPA3):c.226G>T (p.Ala76Ser)
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.238G>A (p.Gly80Ser)
NM_025136.4(OPA3):c.239G>T (p.Gly80Val) rs2122440257
NM_025136.4(OPA3):c.23T>C (p.Met8Thr)
NM_025136.4(OPA3):c.240C>T (p.Gly80=)
NM_025136.4(OPA3):c.244G>T (p.Glu82Ter)
NM_025136.4(OPA3):c.246G>A (p.Glu82=) rs1599964759
NM_025136.4(OPA3):c.247C>T (p.Leu83=)
NM_025136.4(OPA3):c.24G>A (p.Met8Ile)
NM_025136.4(OPA3):c.250C>T (p.Leu84=)
NM_025136.4(OPA3):c.252G>T (p.Leu84=)
NM_025136.4(OPA3):c.253G>C (p.Gly85Arg)
NM_025136.4(OPA3):c.254G>A (p.Gly85Asp) rs1599964721
NM_025136.4(OPA3):c.255C>G (p.Gly85=) rs951025429
NM_025136.4(OPA3):c.256G>A (p.Glu86Lys)
NM_025136.4(OPA3):c.25G>A (p.Ala9Thr)
NM_025136.4(OPA3):c.265A>G (p.Ile89Val)
NM_025136.4(OPA3):c.273C>T (p.Ile91=) rs369545089
NM_025136.4(OPA3):c.274G>A (p.Val92Met) rs752893027
NM_025136.4(OPA3):c.275T>C (p.Val92Ala)
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>G (p.Leu97Val)
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.293T>G (p.Val98Gly) rs967310075
NM_025136.4(OPA3):c.296T>G (p.Leu99Arg) rs1555732924
NM_025136.4(OPA3):c.304T>G (p.Trp102Gly)
NM_025136.4(OPA3):c.30G>A (p.Lys10=) rs1131692018
NM_025136.4(OPA3):c.30G>C (p.Lys10Asn)
NM_025136.4(OPA3):c.313C>A (p.Gln105Lys) rs80356525
NM_025136.4(OPA3):c.313C>G (p.Gln105Glu) rs80356525
NM_025136.4(OPA3):c.313C>T (p.Gln105Ter)
NM_025136.4(OPA3):c.316G>A (p.Ala106Thr)
NM_025136.4(OPA3):c.317C>T (p.Ala106Val) rs764633370
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.337G>A (p.Glu113Lys)
NM_025136.4(OPA3):c.33G>A (p.Leu11=) rs148805518
NM_025136.4(OPA3):c.342G>A (p.Glu114=)
NM_025136.4(OPA3):c.34C>G (p.Leu12Val)
NM_025136.4(OPA3):c.352G>C (p.Ala118Pro)
NM_025136.4(OPA3):c.360C>A (p.Asn120Lys)
NM_025136.4(OPA3):c.360C>T (p.Asn120=)
NM_025136.4(OPA3):c.362C>T (p.Ala121Val)
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.368_369delinsCT (p.Arg123Pro)
NM_025136.4(OPA3):c.373G>C (p.Glu125Gln)
NM_025136.4(OPA3):c.374A>T (p.Glu125Val)
NM_025136.4(OPA3):c.380G>A (p.Gly127Asp)
NM_025136.4(OPA3):c.383_385dup (p.His128_Leu129insHis)
NM_025136.4(OPA3):c.390G>A (p.Ala130=) rs2122439205
NM_025136.4(OPA3):c.392T>A (p.Leu131Gln)
NM_025136.4(OPA3):c.393G>A (p.Leu131=)
NM_025136.4(OPA3):c.395C>A (p.Ala132Glu) rs758982194
NM_025136.4(OPA3):c.395C>T (p.Ala132Val)
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.40T>G (p.Leu14Val)
NM_025136.4(OPA3):c.410A>C (p.Gln137Pro) rs372161100
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.417G>C (p.Gln139His)
NM_025136.4(OPA3):c.423_424delinsCT (p.Gln141_Ala142delinsHisSer)
NM_025136.4(OPA3):c.424G>C (p.Ala142Pro) rs535683352
NM_025136.4(OPA3):c.425C>T (p.Ala142Val) rs2122438899
NM_025136.4(OPA3):c.427G>C (p.Ala143Pro)
NM_025136.4(OPA3):c.429G>A (p.Ala143=) rs745373208
NM_025136.4(OPA3):c.429_430delinsAA (p.Pro144Thr)
NM_025136.4(OPA3):c.431C>A (p.Pro144Gln) rs775398472
NM_025136.4(OPA3):c.431C>G (p.Pro144Arg)
NM_025136.4(OPA3):c.433C>T (p.Pro145Ser)
NM_025136.4(OPA3):c.434C>T (p.Pro145Leu)
NM_025136.4(OPA3):c.435A>G (p.Pro145=)
NM_025136.4(OPA3):c.436C>A (p.Gln146Lys)
NM_025136.4(OPA3):c.437A>G (p.Gln146Arg)
NM_025136.4(OPA3):c.439_440del (p.Gly147fs)
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.448G>C (p.Glu150Gln)
NM_025136.4(OPA3):c.455T>C (p.Leu152Pro)
NM_025136.4(OPA3):c.456G>A (p.Leu152=)
NM_025136.4(OPA3):c.456G>T (p.Leu152=)
NM_025136.4(OPA3):c.458G>T (p.Arg153Leu)
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.469C>G (p.Gln157Glu)
NM_025136.4(OPA3):c.471A>G (p.Gln157=)
NM_025136.4(OPA3):c.472G>A (p.Glu158Lys)
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.484C>G (p.Gln162Glu)
NM_025136.4(OPA3):c.484C>T (p.Gln162Ter)
NM_025136.4(OPA3):c.489C>T (p.Leu163=)
NM_025136.4(OPA3):c.494A>G (p.Asn165Ser)
NM_025136.4(OPA3):c.501C>T (p.Gly167=)
NM_025136.4(OPA3):c.502C>T (p.Arg168Trp) rs750946088
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.514C>T (p.His172Tyr) rs1293731096
NM_025136.4(OPA3):c.516C>T (p.His172=) rs1427115632
NM_025136.4(OPA3):c.517G>A (p.Ala173Thr)
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.532A>G (p.Lys178Glu) rs767372876
NM_025136.4(OPA3):c.55G>A (p.Val19Ile) rs1343690502
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.73A>G (p.Asn25Asp)
NM_025136.4(OPA3):c.75C>T (p.Asn25=) rs2122529407
NM_025136.4(OPA3):c.77G>T (p.Arg26Leu) rs1302916174
NM_025136.4(OPA3):c.7G>C (p.Val3Leu)
NM_025136.4(OPA3):c.81del (p.Lys28fs)
NM_025136.4(OPA3):c.84G>A (p.Lys28=)
NM_025136.4(OPA3):c.87G>T (p.Glu29Asp) rs1194417590
NM_025136.4(OPA3):c.89C>T (p.Ala30Val)
NM_025136.4(OPA3):c.90C>A (p.Ala30=) rs1600010139
NM_025136.4(OPA3):c.91G>C (p.Ala31Pro)
NM_025136.4(OPA3):c.94C>T (p.Arg32Cys)
NM_025136.4(OPA3):c.99A>G (p.Arg33=)

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