ClinVar Miner

List of variants in gene OPA1 reported as uncertain significance by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 338
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HGVS dbSNP gnomAD frequency
NM_130837.3(OPA1):c.2506C>T (p.Arg836Trp) rs190235251 0.00017
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.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.557G>A (p.Gly186Asp) rs748799408 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.2818C>T (p.Arg940Cys) rs927450242 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.289C>G (p.Leu97Val) rs369233231 0.00002
NM_130837.3(OPA1):c.679-1G>C rs762321240 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.1135C>T (p.Arg379Cys) rs552243068 0.00001
NM_130837.3(OPA1):c.113G>A (p.Arg38Gln) rs866025924 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.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.2212C>T (p.Arg738Cys) rs1714040834 0.00001
NM_130837.3(OPA1):c.2251A>G (p.Ile751Val) rs961676005 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.2618G>A (p.Arg873Gln) rs954754062 0.00001
NM_130837.3(OPA1):c.2647G>A (p.Val883Ile) rs773078058 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.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.49T>A (p.Leu17Ile) rs760770105 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.646C>T (p.Arg216Cys) rs1489880934 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.860T>C (p.Ile287Thr) rs951002467 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.1007G>C (p.Ser336Thr) rs2109011596
NM_130837.3(OPA1):c.1012A>G (p.Asn338Asp) rs2109011624
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+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.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.1100G>C (p.Arg367Pro)
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.1136G>A (p.Arg379His) rs1475478496
NM_130837.3(OPA1):c.1144G>A (p.Val382Ile)
NM_130837.3(OPA1):c.1149+5G>A
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.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.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.1345A>G (p.Met449Val)
NM_130837.3(OPA1):c.1369G>A (p.Val457Met) rs879255594
NM_130837.3(OPA1):c.1377+5G>A
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.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.1471A>G (p.Ile491Val) rs2109044723
NM_130837.3(OPA1):c.1487T>G (p.Val496Gly) rs2109046850
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.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.1681+11A>G
NM_130837.3(OPA1):c.1681+3A>G rs1553878573
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.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.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.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.1996G>C (p.Val666Leu)
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.2087C>A (p.Ala696Glu)
NM_130837.3(OPA1):c.2091G>C (p.Gln697His)
NM_130837.3(OPA1):c.2105G>T (p.Gly702Val) rs2109139264
NM_130837.3(OPA1):c.2125G>A (p.Asp709Asn)
NM_130837.3(OPA1):c.2128A>G (p.Ile710Val)
NM_130837.3(OPA1):c.2131A>C (p.Lys711Gln)
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>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.2297G>A (p.Arg766Gln)
NM_130837.3(OPA1):c.22G>T (p.Ala8Ser) rs794726939
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.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.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.2495A>G (p.Tyr832Cys)
NM_130837.3(OPA1):c.254G>T (p.Arg85Leu) rs35630194
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+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.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.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.289C>T (p.Leu97Phe)
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.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.418G>A (p.Val140Met)
NM_130837.3(OPA1):c.429TGA[1] (p.Asp144del) rs2108869312
NM_130837.3(OPA1):c.437A>G (p.Tyr146Cys)
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.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.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.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+5G>C
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.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.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.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>T (p.Arg262Leu) rs201202646
NM_130837.3(OPA1):c.790G>A (p.Val264Met) rs1385422732
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.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)

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