ClinVar Miner

List of variants in gene OPA1 reported as uncertain significance for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 464
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_130837.3(OPA1):c.1681+23A>G rs200416825 0.00174
NM_130837.3(OPA1):c.85C>G (p.Pro29Ala) rs145565705 0.00103
NM_130837.3(OPA1):c.254G>A (p.Arg85His) rs35630194 0.00068
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met) rs143319805 0.00056
NM_130837.3(OPA1):c.2610C>T (p.Thr870=) rs139934030 0.00042
NM_130837.3(OPA1):c.2421G>T (p.Leu807=) rs148047706 0.00041
NM_130837.3(OPA1):c.222A>T (p.Lys74Asn) rs114157340 0.00029
NM_130837.3(OPA1):c.921C>T (p.Asp307=) rs147242797 0.00029
NM_130837.3(OPA1):c.2088G>A (p.Ala696=) rs138114609 0.00028
NM_130837.3(OPA1):c.653C>T (p.Ser218Phe) rs200243596 0.00022
NM_130837.3(OPA1):c.3027A>C (p.Glu1009Asp) rs189036094 0.00021
NM_130837.3(OPA1):c.1700T>C (p.Ile567Thr) rs148834015 0.00018
NM_130837.3(OPA1):c.2506C>T (p.Arg836Trp) rs190235251 0.00017
NM_130837.3(OPA1):c.70A>G (p.Ile24Val) rs201520438 0.00017
NM_130837.3(OPA1):c.530G>T (p.Ser177Ile) rs150279202 0.00016
NM_130837.3(OPA1):c.344C>T (p.Ala115Val) rs200983556 0.00013
NM_130837.3(OPA1):c.2099A>G (p.Asn700Ser) rs142694017 0.00009
NM_130837.3(OPA1):c.211C>T (p.Arg71Cys) rs368488165 0.00009
NM_130837.3(OPA1):c.790-4T>A rs374509936 0.00009
NM_130837.3(OPA1):c.2636G>A (p.Arg879Gln) rs200412464 0.00008
NM_130837.3(OPA1):c.1877G>A (p.Arg626His) rs140606054 0.00006
NM_130837.3(OPA1):c.1934G>A (p.Arg645Gln) rs147077380 0.00006
NM_130837.3(OPA1):c.2544T>A (p.Asn848Lys) rs758248456 0.00005
NM_130837.3(OPA1):c.592G>A (p.Asp198Asn) rs535724954 0.00005
NM_130837.3(OPA1):c.737C>T (p.Ala246Val) rs147094219 0.00005
NM_130837.3(OPA1):c.1016C>T (p.Thr339Met) rs141326740 0.00004
NM_130837.3(OPA1):c.1094A>G (p.Gln365Arg) rs770966290 0.00004
NM_130837.3(OPA1):c.2213G>A (p.Arg738His) rs542540811 0.00004
NM_130837.3(OPA1):c.2520+13A>G rs371943802 0.00004
NM_130837.3(OPA1):c.253C>T (p.Arg85Cys) rs372435892 0.00004
NM_130837.3(OPA1):c.506_508del (p.Phe169_Asp170delinsTyr) rs760263649 0.00004
NM_130837.3(OPA1):c.557G>A (p.Gly186Asp) rs748799408 0.00004
NM_130837.3(OPA1):c.617C>T (p.Pro206Leu) rs772090345 0.00004
NM_130837.3(OPA1):c.619G>A (p.Glu207Lys) rs569675223 0.00004
NM_130837.3(OPA1):c.800A>G (p.Lys267Arg) rs1329385935 0.00004
NM_130837.3(OPA1):c.1193A>C (p.Asp398Ala) rs756981921 0.00003
NM_130837.3(OPA1):c.187T>A (p.Ser63Thr) rs777179811 0.00003
NM_130837.3(OPA1):c.2045G>A (p.Arg682Lys) rs772040791 0.00003
NM_130837.3(OPA1):c.245A>G (p.Tyr82Cys) rs749063844 0.00003
NM_130837.3(OPA1):c.2818C>T (p.Arg940Cys) rs927450242 0.00003
NM_130837.3(OPA1):c.33-8T>C rs370303596 0.00003
NM_130837.3(OPA1):c.542A>G (p.Asp181Gly) rs138884045 0.00003
NM_130837.3(OPA1):c.1166G>A (p.Gly389Asp) rs863224133 0.00002
NM_130837.3(OPA1):c.1286G>A (p.Gly429Asp) rs146003075 0.00002
NM_130837.3(OPA1):c.1391G>A (p.Gly464Asp) rs752296610 0.00002
NM_130837.3(OPA1):c.1690T>C (p.Ser564Pro) rs1467607281 0.00002
NM_130837.3(OPA1):c.215A>C (p.Lys72Thr) rs532878175 0.00002
NM_130837.3(OPA1):c.2644G>A (p.Glu882Lys) rs765208285 0.00002
NM_130837.3(OPA1):c.289C>G (p.Leu97Val) rs369233231 0.00002
NM_130837.3(OPA1):c.2962G>A (p.Val988Ile) rs375733283 0.00002
NM_130837.3(OPA1):c.305A>G (p.Tyr102Cys) rs530896300 0.00002
NM_130837.3(OPA1):c.679-1G>C rs762321240 0.00002
NM_130837.3(OPA1):c.706C>A (p.Gln236Lys) rs779375399 0.00002
NM_130837.3(OPA1):c.715A>T (p.Ile239Phe) rs1407152640 0.00002
NM_130837.3(OPA1):c.740G>A (p.Arg247His) rs138350727 0.00002
NM_130837.3(OPA1):c.838A>G (p.Thr280Ala) rs774668971 0.00002
NM_130837.3(OPA1):c.964A>G (p.Met322Val) rs938874214 0.00002
NM_130837.3(OPA1):c.*5+1G>T rs1250028962 0.00001
NM_130837.3(OPA1):c.1100G>A (p.Arg367Gln) rs372878876 0.00001
NM_130837.3(OPA1):c.1135C>T (p.Arg379Cys) rs552243068 0.00001
NM_130837.3(OPA1):c.113G>A (p.Arg38Gln) rs866025924 0.00001
NM_130837.3(OPA1):c.1168C>T (p.Pro390Ser) rs1057524630 0.00001
NM_130837.3(OPA1):c.1234G>A (p.Ala412Thr) rs190223702 0.00001
NM_130837.3(OPA1):c.1262G>A (p.Arg421Gln) rs535885178 0.00001
NM_130837.3(OPA1):c.1300C>T (p.Pro434Ser) rs762004680 0.00001
NM_130837.3(OPA1):c.1347G>A (p.Met449Ile) rs377726977 0.00001
NM_130837.3(OPA1):c.1398T>C (p.Ala466=) rs886043473 0.00001
NM_130837.3(OPA1):c.1555T>C (p.Phe519Leu) rs757786063 0.00001
NM_130837.3(OPA1):c.1608+5G>A rs376673283 0.00001
NM_130837.3(OPA1):c.1744A>C (p.Lys582Gln) rs766935532 0.00001
NM_130837.3(OPA1):c.2006A>T (p.Lys669Ile) rs146601330 0.00001
NM_130837.3(OPA1):c.205C>G (p.Pro69Ala) rs750775588 0.00001
NM_130837.3(OPA1):c.212G>A (p.Arg71His) rs766106312 0.00001
NM_130837.3(OPA1):c.2168A>C (p.Lys723Thr) rs1713442826 0.00001
NM_130837.3(OPA1):c.2212C>T (p.Arg738Cys) rs1714040834 0.00001
NM_130837.3(OPA1):c.2251A>G (p.Ile751Val) rs961676005 0.00001
NM_130837.3(OPA1):c.2348A>G (p.Asn783Ser) rs749143995 0.00001
NM_130837.3(OPA1):c.2429G>A (p.Arg810His) rs762258708 0.00001
NM_130837.3(OPA1):c.2452A>G (p.Ile818Val) rs771263962 0.00001
NM_130837.3(OPA1):c.2617C>T (p.Arg873Trp) rs143252541 0.00001
NM_130837.3(OPA1):c.2618G>A (p.Arg873Gln) rs954754062 0.00001
NM_130837.3(OPA1):c.2647G>A (p.Val883Ile) rs773078058 0.00001
NM_130837.3(OPA1):c.2729T>G (p.Leu910Arg) rs139106405 0.00001
NM_130837.3(OPA1):c.2735G>A (p.Arg912Gln) rs1215497493 0.00001
NM_130837.3(OPA1):c.2938A>G (p.Ile980Val) rs1716777737 0.00001
NM_130837.3(OPA1):c.2960G>A (p.Arg987His) rs1160551128 0.00001
NM_130837.3(OPA1):c.3016G>A (p.Ala1006Thr) rs1166323851 0.00001
NM_130837.3(OPA1):c.3017C>G (p.Ala1006Gly) rs577055148 0.00001
NM_130837.3(OPA1):c.301C>T (p.Arg101Cys) rs371943668 0.00001
NM_130837.3(OPA1):c.302G>A (p.Arg101His) rs201856560 0.00001
NM_130837.3(OPA1):c.3048A>C (p.Ter1016Tyr) rs143929819 0.00001
NM_130837.3(OPA1):c.312A>G (p.Ile104Met) rs755117948 0.00001
NM_130837.3(OPA1):c.326T>C (p.Val109Ala) rs77173739 0.00001
NM_130837.3(OPA1):c.380C>T (p.Pro127Leu) rs772551106 0.00001
NM_130837.3(OPA1):c.464C>T (p.Ala155Val) rs751318725 0.00001
NM_130837.3(OPA1):c.49T>A (p.Leu17Ile) rs760770105 0.00001
NM_130837.3(OPA1):c.517G>A (p.Val173Ile) rs778997114 0.00001
NM_130837.3(OPA1):c.531C>A (p.Ser177Arg) rs727504057 0.00001
NM_130837.3(OPA1):c.559C>T (p.His187Tyr) rs374756648 0.00001
NM_130837.3(OPA1):c.560A>G (p.His187Arg) rs1022524955 0.00001
NM_130837.3(OPA1):c.590C>G (p.Ser197Cys) rs1729303601 0.00001
NM_130837.3(OPA1):c.626C>T (p.Thr209Met) rs772596317 0.00001
NM_130837.3(OPA1):c.646C>T (p.Arg216Cys) rs1489880934 0.00001
NM_130837.3(OPA1):c.661G>A (p.Asp221Asn) rs367814426 0.00001
NM_130837.3(OPA1):c.784C>T (p.Arg262Cys) rs767350693 0.00001
NM_130837.3(OPA1):c.789+2T>C rs1731099484 0.00001
NM_130837.3(OPA1):c.821A>G (p.Gln274Arg) rs1258694003 0.00001
NM_130837.3(OPA1):c.860T>C (p.Ile287Thr) rs951002467 0.00001
NM_130837.3(OPA1):c.89T>C (p.Leu30Pro) rs758056583 0.00001
NM_130837.3(OPA1):c.902T>C (p.Leu301Ser) rs1488795500 0.00001
NM_130837.3(OPA1):c.948+5T>G rs376022570 0.00001
NM_130837.3(OPA1):c.964A>T (p.Met322Leu) rs938874214 0.00001
NC_000003.11:g.(?_193354964)_(193361914_?)dup
NM_130837.3(OPA1):c.*1_*5delATTAA
NM_130837.3(OPA1):c.1006A>C (p.Ser336Arg)
NM_130837.3(OPA1):c.1007G>A (p.Ser336Asn)
NM_130837.3(OPA1):c.1007G>C (p.Ser336Thr) rs2109011596
NM_130837.3(OPA1):c.1012A>G (p.Asn338Asp) rs2109011624
NM_130837.3(OPA1):c.1019A>C (p.Gln340Pro)
NM_130837.3(OPA1):c.1019A>G (p.Gln340Arg)
NM_130837.3(OPA1):c.1025A>G (p.His342Arg)
NM_130837.3(OPA1):c.1031C>G (p.Pro344Arg)
NM_130837.3(OPA1):c.1035+3A>G
NM_130837.3(OPA1):c.1035+3_1035+4delinsGC rs2109011823
NM_130837.3(OPA1):c.1036-5G>A
NM_130837.3(OPA1):c.1036-6G>A rs1553876585
NM_130837.3(OPA1):c.1049G>T (p.Gly350Val)
NM_130837.3(OPA1):c.104T>C (p.Leu35Pro)
NM_130837.3(OPA1):c.1055A>C (p.Gln352Pro) rs2109014902
NM_130837.3(OPA1):c.1067A>G (p.Lys356Arg)
NM_130837.3(OPA1):c.106G>C (p.Val36Leu)
NM_130837.3(OPA1):c.1070C>T (p.Thr357Ile) rs2109014949
NM_130837.3(OPA1):c.1073G>T (p.Ser358Ile)
NM_130837.3(OPA1):c.1091C>T (p.Ala364Val)
NM_130837.3(OPA1):c.1096G>C (p.Ala366Pro)
NM_130837.3(OPA1):c.1097C>A (p.Ala366Asp) rs398124302
NM_130837.3(OPA1):c.1100G>C (p.Arg367Pro)
NM_130837.3(OPA1):c.110C>T (p.Ser37Leu)
NM_130837.3(OPA1):c.1128G>A (p.Met376Ile)
NM_130837.3(OPA1):c.1132_1133insTCA (p.Met377_Thr378insIle) rs2109015232
NM_130837.3(OPA1):c.1135C>G (p.Arg379Gly)
NM_130837.3(OPA1):c.1136G>A (p.Arg379His) rs1475478496
NM_130837.3(OPA1):c.113_130del (p.Arg38_Ser43del) rs863224140
NM_130837.3(OPA1):c.1144G>A (p.Val382Ile)
NM_130837.3(OPA1):c.1149+5G>A
NM_130837.3(OPA1):c.1149G>T (p.Lys383Asn) rs1560365123
NM_130837.3(OPA1):c.1151T>G (p.Val384Gly)
NM_130837.3(OPA1):c.1165G>A (p.Gly389Ser)
NM_130837.3(OPA1):c.116G>A (p.Ser39Asn)
NM_130837.3(OPA1):c.1174C>G (p.His392Asp) rs1553877591
NM_130837.3(OPA1):c.1177G>T (p.Val393Leu)
NM_130837.3(OPA1):c.118A>G (p.Ile40Val)
NM_130837.3(OPA1):c.1195A>C (p.Ser399Arg) rs1553877599
NM_130837.3(OPA1):c.1202G>A (p.Arg401Gln) rs1180256773
NM_130837.3(OPA1):c.1223A>G (p.Glu408Gly)
NM_130837.3(OPA1):c.1228G>A (p.Asp410Asn)
NM_130837.3(OPA1):c.1228G>T (p.Asp410Tyr)
NM_130837.3(OPA1):c.1230T>C (p.Asp410=)
NM_130837.3(OPA1):c.1248T>G (p.His416Gln)
NM_130837.3(OPA1):c.1286G>T (p.Gly429Val) rs146003075
NM_130837.3(OPA1):c.1288T>C (p.Cys430Arg)
NM_130837.3(OPA1):c.1292C>T (p.Thr431Ile)
NM_130837.3(OPA1):c.1294G>A (p.Val432Ile)
NM_130837.3(OPA1):c.1294G>T (p.Val432Phe) rs780922750
NM_130837.3(OPA1):c.1305+3A>G
NM_130837.3(OPA1):c.1305+4A>G rs1734019105
NM_130837.3(OPA1):c.1306-6G>A
NM_130837.3(OPA1):c.1307C>A (p.Thr436Asn) rs1174632014
NM_130837.3(OPA1):c.1323A>G (p.Val441=) rs1014702193
NM_130837.3(OPA1):c.1345A>G (p.Met449Val)
NM_130837.3(OPA1):c.1359C>G (p.Asp453Glu)
NM_130837.3(OPA1):c.1369G>A (p.Val457Met) rs879255594
NM_130837.3(OPA1):c.1377+5G>A
NM_130837.3(OPA1):c.1377+5_1377+6delinsTC rs797044639
NM_130837.3(OPA1):c.1378-3A>G rs1438193216
NM_130837.3(OPA1):c.1378-4T>C rs778161316
NM_130837.3(OPA1):c.1400C>T (p.Pro467Leu) rs2109044362
NM_130837.3(OPA1):c.1411G>A (p.Glu471Lys)
NM_130837.3(OPA1):c.1429A>G (p.Ser477Gly) rs1231502335
NM_130837.3(OPA1):c.1448A>C (p.Asn483Thr)
NM_130837.3(OPA1):c.1451C>G (p.Pro484Arg)
NM_130837.3(OPA1):c.1466T>C (p.Leu489Pro) rs1553877946
NM_130837.3(OPA1):c.1471A>G (p.Ile491Val) rs2109044723
NM_130837.3(OPA1):c.1480G>A (p.Gly494Arg) rs2109046811
NM_130837.3(OPA1):c.1487T>G (p.Val496Gly) rs2109046850
NM_130837.3(OPA1):c.1498C>A (p.Arg500Ser) rs886043340
NM_130837.3(OPA1):c.1498C>T (p.Arg500Cys)
NM_130837.3(OPA1):c.1513G>A (p.Asp505Asn) rs761655742
NM_130837.3(OPA1):c.1545_1547del (p.Arg516del) rs1199056091
NM_130837.3(OPA1):c.1550C>A (p.Thr517Asn)
NM_130837.3(OPA1):c.1554A>G (p.Ile518Met)
NM_130837.3(OPA1):c.1569A>G (p.Lys523=) rs746251280
NM_130837.3(OPA1):c.1577T>C (p.Leu526Pro) rs1553878150
NM_130837.3(OPA1):c.1585A>G (p.Lys529Glu) rs1734177957
NM_130837.3(OPA1):c.1590T>A (p.Asn530Lys) rs863224137
NM_130837.3(OPA1):c.1598G>T (p.Ser533Ile)
NM_130837.3(OPA1):c.1603A>G (p.Ser535Gly)
NM_130837.3(OPA1):c.1608+8C>A
NM_130837.3(OPA1):c.1609A>C (p.Ile537Leu)
NM_130837.3(OPA1):c.1619T>C (p.Ile540Thr)
NM_130837.3(OPA1):c.1621A>T (p.Ile541Phe)
NM_130837.3(OPA1):c.1631A>C (p.Lys544Thr)
NM_130837.3(OPA1):c.1639C>A (p.Pro547Thr) rs2109057610
NM_130837.3(OPA1):c.1666G>A (p.Val556Ile) rs1553878564
NM_130837.3(OPA1):c.1681+11A>G
NM_130837.3(OPA1):c.1681+3A>G rs1553878573
NM_130837.3(OPA1):c.1681+5G>A rs1553878576
NM_130837.3(OPA1):c.1681+6C>G rs2109057744
NM_130837.3(OPA1):c.1681G>C (p.Gly561Arg)
NM_130837.3(OPA1):c.1688G>A (p.Ser563Asn)
NM_130837.3(OPA1):c.168G>T (p.Arg56Ser)
NM_130837.3(OPA1):c.1691C>G (p.Ser564Cys)
NM_130837.3(OPA1):c.16C>G (p.Arg6Gly)
NM_130837.3(OPA1):c.1701T>G (p.Ile567Met) rs2109058778
NM_130837.3(OPA1):c.1706C>G (p.Ala569Gly)
NM_130837.3(OPA1):c.1708A>G (p.Ile570Val)
NM_130837.3(OPA1):c.170C>T (p.Thr57Ile)
NM_130837.3(OPA1):c.1714G>C (p.Glu572Gln)
NM_130837.3(OPA1):c.1715A>T (p.Glu572Val)
NM_130837.3(OPA1):c.1722AGA[1] (p.Glu576del) rs794727173
NM_130837.3(OPA1):c.1725A>C (p.Glu575Asp) rs1424763009
NM_130837.3(OPA1):c.1737G>C (p.Gln579His) rs538099724
NM_130837.3(OPA1):c.1747C>G (p.Leu583Val)
NM_130837.3(OPA1):c.1751T>G (p.Leu584Arg)
NM_130837.3(OPA1):c.1752A>G (p.Leu584=)
NM_130837.3(OPA1):c.1754+3A>T
NM_130837.3(OPA1):c.1871C>A (p.Ala624Glu) rs1553879362
NM_130837.3(OPA1):c.191C>T (p.Ser64Phe)
NM_130837.3(OPA1):c.1921C>T (p.Arg641Trp)
NM_130837.3(OPA1):c.1935+3A>G rs398124300
NM_130837.3(OPA1):c.1936-10_1943dup
NM_130837.3(OPA1):c.1937A>G (p.Asn646Ser)
NM_130837.3(OPA1):c.193C>G (p.Leu65Val)
NM_130837.3(OPA1):c.1946T>C (p.Phe649Ser) rs886042514
NM_130837.3(OPA1):c.1950_1973dup (p.Leu657_Asp658insGluLysAlaLysAsnGluIleLeu)
NM_130837.3(OPA1):c.1961A>G (p.Asn654Ser)
NM_130837.3(OPA1):c.1966A>G (p.Ile656Val)
NM_130837.3(OPA1):c.1985G>A (p.Ser662Asn) rs2109083949
NM_130837.3(OPA1):c.1996G>A (p.Val666Ile) rs200756304
NM_130837.3(OPA1):c.1996G>C (p.Val666Leu)
NM_130837.3(OPA1):c.2013-10_2013-8del rs781060459
NM_130837.3(OPA1):c.2030A>G (p.Gln677Arg)
NM_130837.3(OPA1):c.2042A>G (p.Glu681Gly)
NM_130837.3(OPA1):c.2044A>G (p.Arg682Gly)
NM_130837.3(OPA1):c.2046A>C (p.Arg682Ser)
NM_130837.3(OPA1):c.2053A>G (p.Thr685Ala)
NM_130837.3(OPA1):c.2054C>A (p.Thr685Asn)
NM_130837.3(OPA1):c.2057A>G (p.His686Arg)
NM_130837.3(OPA1):c.2062A>C (p.Ile688Leu)
NM_130837.3(OPA1):c.2075A>G (p.Tyr692Cys)
NM_130837.3(OPA1):c.2083G>T (p.Ala695Ser) rs776520906
NM_130837.3(OPA1):c.2084C>T (p.Ala695Val) rs2109139144
NM_130837.3(OPA1):c.2087C>A (p.Ala696Glu)
NM_130837.3(OPA1):c.2091G>C (p.Gln697His)
NM_130837.3(OPA1):c.2097G>A (p.Met699Ile)
NM_130837.3(OPA1):c.2105G>T (p.Gly702Val) rs2109139264
NM_130837.3(OPA1):c.2125G>A (p.Asp709Asn)
NM_130837.3(OPA1):c.2126A>G (p.Asp709Gly) rs2109139343
NM_130837.3(OPA1):c.2128A>G (p.Ile710Val)
NM_130837.3(OPA1):c.2131A>C (p.Lys711Gln)
NM_130837.3(OPA1):c.2132A>C (p.Lys711Thr) rs2109139390
NM_130837.3(OPA1):c.2143T>C (p.Trp715Arg) rs1553881180
NM_130837.3(OPA1):c.2149G>T (p.Asp717Tyr) rs1379001496
NM_130837.3(OPA1):c.2177A>C (p.Glu726Ala) rs2109139681
NM_130837.3(OPA1):c.2178G>A (p.Glu726=)
NM_130837.3(OPA1):c.2179-3T>C
NM_130837.3(OPA1):c.2179-7A>G rs2109162943
NM_130837.3(OPA1):c.2194C>G (p.Leu732Val)
NM_130837.3(OPA1):c.2218A>C (p.Met740Leu)
NM_130837.3(OPA1):c.2218A>G (p.Met740Val)
NM_130837.3(OPA1):c.2220G>A (p.Met740Ile) rs2109163377
NM_130837.3(OPA1):c.2220G>T (p.Met740Ile)
NM_130837.3(OPA1):c.2228C>G (p.Pro743Arg) rs746579947
NM_130837.3(OPA1):c.2244T>A (p.His748Gln) rs2109163613
NM_130837.3(OPA1):c.2263_2268del (p.Leu755_Lys756del) rs755591067
NM_130837.3(OPA1):c.2273C>T (p.Ala758Val)
NM_130837.3(OPA1):c.2274_2275inv (p.Val759Ile)
NM_130837.3(OPA1):c.2287A>G (p.Ser763Gly)
NM_130837.3(OPA1):c.2289_2306del (p.Ser763_Trp769delinsArg) rs886043383
NM_130837.3(OPA1):c.2297G>A (p.Arg766Gln)
NM_130837.3(OPA1):c.22G>T (p.Ala8Ser) rs794726939
NM_130837.3(OPA1):c.2303A>G (p.Lys768Arg) rs2109164239
NM_130837.3(OPA1):c.2320G>C (p.Glu774Gln)
NM_130837.3(OPA1):c.2327G>A (p.Ser776Asn)
NM_130837.3(OPA1):c.232A>G (p.Ile78Val)
NM_130837.3(OPA1):c.2331+6T>A
NM_130837.3(OPA1):c.2332-3C>T
NM_130837.3(OPA1):c.2350G>A (p.Ala784Thr) rs1714562883
NM_130837.3(OPA1):c.2365T>G (p.Ser789Ala)
NM_130837.3(OPA1):c.2368A>G (p.Ile790Val)
NM_130837.3(OPA1):c.238T>C (p.Tyr80His)
NM_130837.3(OPA1):c.2393C>T (p.Ala798Val)
NM_130837.3(OPA1):c.2395G>A (p.Ala799Thr) rs2109186848
NM_130837.3(OPA1):c.2410G>C (p.Glu804Gln) rs1714572413
NM_130837.3(OPA1):c.2415G>T (p.Glu805Asp)
NM_130837.3(OPA1):c.2416G>A (p.Ala806Thr)
NM_130837.3(OPA1):c.2420T>C (p.Leu807Pro) rs1560035790
NM_130837.3(OPA1):c.2424G>C (p.Gln808His)
NM_130837.3(OPA1):c.2426C>G (p.Ala809Gly)
NM_130837.3(OPA1):c.2428C>T (p.Arg810Cys)
NM_130837.3(OPA1):c.2435A>G (p.Lys812Arg)
NM_130837.3(OPA1):c.2438A>G (p.Asp813Gly)
NM_130837.3(OPA1):c.2441-4C>G rs763386320
NM_130837.3(OPA1):c.2495A>G (p.Tyr832Cys)
NM_130837.3(OPA1):c.2502G>T (p.Lys834Asn) rs2109193504
NM_130837.3(OPA1):c.254G>T (p.Arg85Leu) rs35630194
NM_130837.3(OPA1):c.2569A>G (p.Asn857Asp) rs2109231506
NM_130837.3(OPA1):c.2572GAG[1] (p.Glu859del)
NM_130837.3(OPA1):c.2581C>G (p.Pro861Ala)
NM_130837.3(OPA1):c.2597G>A (p.Ser866Asn)
NM_130837.3(OPA1):c.2600A>G (p.Asp867Gly)
NM_130837.3(OPA1):c.2639G>C (p.Gly880Ala)
NM_130837.3(OPA1):c.2642T>C (p.Val881Ala)
NM_130837.3(OPA1):c.2648T>C (p.Val883Ala)
NM_130837.3(OPA1):c.2661+4A>C
NM_130837.3(OPA1):c.2661+6A>G rs2109232299
NM_130837.3(OPA1):c.2687A>G (p.Tyr896Cys)
NM_130837.3(OPA1):c.2693_2695del (p.Arg898_His899delinsAsn)
NM_130837.3(OPA1):c.2721T>G (p.His907Gln) rs767354521
NM_130837.3(OPA1):c.272C>G (p.Ala91Gly) rs1085307621
NM_130837.3(OPA1):c.274A>G (p.Arg92Gly)
NM_130837.3(OPA1):c.2767G>A (p.Val923Ile) rs780773698
NM_130837.3(OPA1):c.2778+3A>G
NM_130837.3(OPA1):c.2778+4A>G rs2109254338
NM_130837.3(OPA1):c.2778G>A (p.Glu926=)
NM_130837.3(OPA1):c.2779-12T>C
NM_130837.3(OPA1):c.2779-9_2779-7del rs2109267687
NM_130837.3(OPA1):c.278T>C (p.Leu93Ser) rs767232015
NM_130837.3(OPA1):c.2792A>G (p.Asp931Gly)
NM_130837.3(OPA1):c.2808G>C (p.Trp936Cys)
NM_130837.3(OPA1):c.2809C>T (p.Arg937Cys)
NM_130837.3(OPA1):c.2816A>G (p.Gln939Arg)
NM_130837.3(OPA1):c.2819G>A (p.Arg940His)
NM_130837.3(OPA1):c.2827G>T (p.Ala943Ser)
NM_130837.3(OPA1):c.2836G>A (p.Ala946Thr)
NM_130837.3(OPA1):c.283A>G (p.Thr95Ala)
NM_130837.3(OPA1):c.2840A>C (p.Asn947Thr) rs750518068
NM_130837.3(OPA1):c.2857C>T (p.Leu953Phe)
NM_130837.3(OPA1):c.2867C>T (p.Thr956Ile)
NM_130837.3(OPA1):c.2873-10C>G rs2109277041
NM_130837.3(OPA1):c.2879G>A (p.Arg960Gln) rs763280368
NM_130837.3(OPA1):c.2885A>G (p.Glu962Gly) rs863224138
NM_130837.3(OPA1):c.289C>T (p.Leu97Phe)
NM_130837.3(OPA1):c.2902G>A (p.Val968Ile) rs863224139
NM_130837.3(OPA1):c.2902G>T (p.Val968Leu) rs863224139
NM_130837.3(OPA1):c.2912A>T (p.Asp971Val)
NM_130837.3(OPA1):c.2916T>G (p.Phe972Leu)
NM_130837.3(OPA1):c.2924A>C (p.Asp975Ala)
NM_130837.3(OPA1):c.2926G>T (p.Gly976Cys) rs752986280
NM_130837.3(OPA1):c.2930AGA[2] (p.Lys979del)
NM_130837.3(OPA1):c.2945T>G (p.Leu982Trp) rs2109277811
NM_130837.3(OPA1):c.2951C>G (p.Thr984Ser) rs2109277839
NM_130837.3(OPA1):c.2954G>A (p.Gly985Asp) rs2109277876
NM_130837.3(OPA1):c.2966A>G (p.Gln989Arg)
NM_130837.3(OPA1):c.2972C>T (p.Ala991Val)
NM_130837.3(OPA1):c.2982C>T (p.Leu994=)
NM_130837.3(OPA1):c.2983+6T>A rs1577335678
NM_130837.3(OPA1):c.2983+6T>C rs1577335678
NM_130837.3(OPA1):c.2984-1G>C
NM_130837.3(OPA1):c.2987_2992del (p.Lys996_Val997del) rs2109460418
NM_130837.3(OPA1):c.298C>G (p.Leu100Val)
NM_130837.3(OPA1):c.3010C>A (p.Leu1004Ile)
NM_130837.3(OPA1):c.3010C>G (p.Leu1004Val)
NM_130837.3(OPA1):c.3013_3019dup (p.Phe1007Ter) rs1553797598
NM_130837.3(OPA1):c.301C>A (p.Arg101Ser) rs371943668
NM_130837.3(OPA1):c.3029C>T (p.Ala1010Val)
NM_130837.3(OPA1):c.302G>T (p.Arg101Leu)
NM_130837.3(OPA1):c.3032T>C (p.Leu1011Pro) rs2109460739
NM_130837.3(OPA1):c.3040G>C (p.Glu1014Gln) rs2109460771
NM_130837.3(OPA1):c.305A>C (p.Tyr102Ser) rs530896300
NM_130837.3(OPA1):c.316G>C (p.Gly106Arg)
NM_130837.3(OPA1):c.318A>T (p.Gly106=) rs2108865723
NM_130837.3(OPA1):c.320C>T (p.Ser107Leu)
NM_130837.3(OPA1):c.323C>T (p.Ala108Val) rs2108865778
NM_130837.3(OPA1):c.334G>A (p.Gly112Ser)
NM_130837.3(OPA1):c.363G>T (p.Gln121His)
NM_130837.3(OPA1):c.379C>A (p.Pro127Thr)
NM_130837.3(OPA1):c.37G>A (p.Val13Ile)
NM_130837.3(OPA1):c.389G>A (p.Ser130Asn)
NM_130837.3(OPA1):c.38T>G (p.Val13Gly)
NM_130837.3(OPA1):c.392A>G (p.Glu131Gly)
NM_130837.3(OPA1):c.402G>T (p.Trp134Cys) rs1478806927
NM_130837.3(OPA1):c.410C>G (p.Pro137Arg)
NM_130837.3(OPA1):c.415A>G (p.Ile139Val) rs2108869216
NM_130837.3(OPA1):c.417T>G (p.Ile139Met) rs1446797783
NM_130837.3(OPA1):c.418G>A (p.Val140Met)
NM_130837.3(OPA1):c.429T>C (p.Ile143=) rs761336580
NM_130837.3(OPA1):c.429TGA[1] (p.Asp144del) rs2108869312
NM_130837.3(OPA1):c.437A>G (p.Tyr146Cys)
NM_130837.3(OPA1):c.442G>A (p.Asp148Asn)
NM_130837.3(OPA1):c.446T>G (p.Phe149Cys) rs2108869401
NM_130837.3(OPA1):c.449-12_449-5del rs2108877798
NM_130837.3(OPA1):c.455T>A (p.Ile152Asn) rs2108877878
NM_130837.3(OPA1):c.472_473delinsGA (p.Ser158Asp)
NM_130837.3(OPA1):c.500C>T (p.Pro167Leu)
NM_130837.3(OPA1):c.502G>C (p.Asp168His)
NM_130837.3(OPA1):c.504C>G (p.Asp168Glu)
NM_130837.3(OPA1):c.508G>A (p.Asp170Asn)
NM_130837.3(OPA1):c.516T>G (p.Ile172Met) rs863224126
NM_130837.3(OPA1):c.520G>A (p.Glu174Lys) rs2108878224
NM_130837.3(OPA1):c.539A>G (p.Lys180Arg)
NM_130837.3(OPA1):c.544T>C (p.Phe182Leu) rs769335936
NM_130837.3(OPA1):c.556+3A>G
NM_130837.3(OPA1):c.557-1G>C
NM_130837.3(OPA1):c.558T>G (p.Gly186=)
NM_130837.3(OPA1):c.572G>A (p.Ser191Asn)
NM_130837.3(OPA1):c.576A>T (p.Glu192Asp) rs2108882278
NM_130837.3(OPA1):c.580A>C (p.Ile194Leu) rs368853243
NM_130837.3(OPA1):c.580A>G (p.Ile194Val) rs368853243
NM_130837.3(OPA1):c.581T>C (p.Ile194Thr)
NM_130837.3(OPA1):c.5G>T (p.Trp2Leu)
NM_130837.3(OPA1):c.604_605del (p.Leu202fs) rs886043124
NM_130837.3(OPA1):c.610+360G>A rs1553872542
NM_130837.3(OPA1):c.610+5G>C
NM_130837.3(OPA1):c.611-8_611-3del rs1553872701
NM_130837.3(OPA1):c.611G>C (p.Gly204Ala)
NM_130837.3(OPA1):c.632T>C (p.Phe211Ser)
NM_130837.3(OPA1):c.634A>G (p.Arg212Gly)
NM_130837.3(OPA1):c.636A>C (p.Arg212Ser)
NM_130837.3(OPA1):c.640A>G (p.Thr214Ala)
NM_130837.3(OPA1):c.641C>G (p.Thr214Arg) rs1198238586
NM_130837.3(OPA1):c.665A>G (p.Lys222Arg) rs1729522355
NM_130837.3(OPA1):c.674G>A (p.Arg225Lys) rs2108889398
NM_130837.3(OPA1):c.679-3C>T rs1392546160
NM_130837.3(OPA1):c.679G>T (p.Gly227Cys)
NM_130837.3(OPA1):c.685C>A (p.Leu229Ile) rs764955203
NM_130837.3(OPA1):c.696C>T (p.Leu232=) rs375209295
NM_130837.3(OPA1):c.706C>G (p.Gln236Glu) rs779375399
NM_130837.3(OPA1):c.706C>T (p.Gln236Ter)
NM_130837.3(OPA1):c.706CAA[2] (p.Gln238del)
NM_130837.3(OPA1):c.712C>G (p.Gln238Glu) rs1131691832
NM_130837.3(OPA1):c.718C>A (p.Gln240Lys)
NM_130837.3(OPA1):c.718C>G (p.Gln240Glu)
NM_130837.3(OPA1):c.718C>T (p.Gln240Ter)
NM_130837.3(OPA1):c.722A>G (p.Glu241Gly)
NM_130837.3(OPA1):c.727G>A (p.Glu243Lys)
NM_130837.3(OPA1):c.739C>T (p.Arg247Cys)
NM_130837.3(OPA1):c.742A>G (p.Arg248Gly)
NM_130837.3(OPA1):c.743G>A (p.Arg248Lys)
NM_130837.3(OPA1):c.748del (p.Ala250fs) rs1262868695
NM_130837.3(OPA1):c.755A>C (p.Gln252Pro)
NM_130837.3(OPA1):c.772G>C (p.Ala258Pro)
NM_130837.3(OPA1):c.778C>T (p.Gln260Ter)
NM_130837.3(OPA1):c.77G>A (p.Gly26Glu) rs1473275837
NM_130837.3(OPA1):c.780_781del (p.Lys261fs) rs954901985
NM_130837.3(OPA1):c.785G>A (p.Arg262His) rs201202646
NM_130837.3(OPA1):c.785G>T (p.Arg262Leu) rs201202646
NM_130837.3(OPA1):c.790G>A (p.Val264Met) rs1385422732
NM_130837.3(OPA1):c.794C>T (p.Ser265Leu) rs1553875179
NM_130837.3(OPA1):c.830T>C (p.Leu277Pro)
NM_130837.3(OPA1):c.843+4dup
NM_130837.3(OPA1):c.843+5T>C
NM_130837.3(OPA1):c.86C>A (p.Pro29Gln)
NM_130837.3(OPA1):c.895A>G (p.Arg299Gly) rs2109002496
NM_130837.3(OPA1):c.926G>A (p.Gly309Asp)
NM_130837.3(OPA1):c.943C>G (p.Leu315Val) rs866764665
NM_130837.3(OPA1):c.94A>C (p.Lys32Gln)
NM_130837.3(OPA1):c.953C>A (p.Ser318Tyr)
NM_130837.3(OPA1):c.962A>C (p.Asp321Ala) rs1335020558
NM_130837.3(OPA1):c.962A>G (p.Asp321Gly)
NM_130837.3(OPA1):c.977T>C (p.Val326Ala) rs760938906
NM_130837.3(OPA1):c.983A>T (p.Asp328Val) rs2109011482
NM_130837.3(OPA1):c.985G>A (p.Val329Ile) rs1347426414
NM_130837.3(OPA1):c.991T>C (p.Ser331Pro)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.