ClinVar Miner

List of variants in gene OPA1

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Gene type:
ClinVar version:
Total variants: 318
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HGVS dbSNP
GRCh37/hg19 3q29(chr3:193331148-193415325)x1
GRCh37/hg19 3q29(chr3:193360287-193360759)x1
NM_015560.2(OPA1):c.*1031A>T rs114606850
NM_015560.2(OPA1):c.*1113C>T rs12630
NM_015560.2(OPA1):c.*1343A>G rs1056366
NM_015560.2(OPA1):c.*1425G>A rs117826024
NM_015560.2(OPA1):c.*1610C>A rs73069785
NM_015560.2(OPA1):c.*1815T>C rs570796106
NM_015560.2(OPA1):c.*1919T>A rs867799524
NM_015560.2(OPA1):c.*2092C>T rs1056390
NM_015560.2(OPA1):c.*2115G>A rs144079165
NM_015560.2(OPA1):c.*2156A>G rs886058258
NM_015560.2(OPA1):c.*220A>G rs76421015
NM_015560.2(OPA1):c.*2241A>G rs778074372
NM_015560.2(OPA1):c.*2283A>G rs886058259
NM_015560.2(OPA1):c.*2286T>C rs115575058
NM_015560.2(OPA1):c.*2344A>G rs1056392
NM_015560.2(OPA1):c.*2391T>C rs11719309
NM_015560.2(OPA1):c.*2408A>G rs73069788
NM_015560.2(OPA1):c.*2416C>T rs539683627
NM_015560.2(OPA1):c.*2605_*2607del rs886058260
NM_015560.2(OPA1):c.*260G>T rs886058256
NM_015560.2(OPA1):c.*2692G>A rs886058261
NM_015560.2(OPA1):c.*2694T>A rs886058262
NM_015560.2(OPA1):c.*283A>G rs1061648
NM_015560.2(OPA1):c.*2873A>T rs10419
NM_015560.2(OPA1):c.*2909A>T rs886058263
NM_015560.2(OPA1):c.*2993C>A rs143991575
NM_015560.2(OPA1):c.*3027A>G rs56329083
NM_015560.2(OPA1):c.*3147G>C rs886058264
NM_015560.2(OPA1):c.*322G>A rs886058257
NM_015560.2(OPA1):c.*376A>G rs142349183
NM_015560.2(OPA1):c.*560T>C rs7643844
NM_015560.2(OPA1):c.*56C>T rs564487151
NM_015560.2(OPA1):c.*622C>T rs750359704
NM_015560.2(OPA1):c.*623G>A rs146468889
NM_015560.2(OPA1):c.*694C>A rs190367068
NM_015560.2(OPA1):c.*863A>G rs193292545
NM_015560.2(OPA1):c.-102G>A rs886058255
NM_015560.2(OPA1):c.-10C>T rs775614028
NM_015560.2(OPA1):c.-11C>G rs568049951
NM_015560.2(OPA1):c.-8C>T rs371988066
NM_015560.2(OPA1):c.1003C>T (p.Pro335Ser) rs1057524630
NM_015560.2(OPA1):c.1009C>G (p.His337Asp) rs1553877591
NM_015560.2(OPA1):c.1024A>G (p.Lys342Glu) rs1057517999
NM_015560.2(OPA1):c.1028A>C (p.Asp343Ala) rs756981921
NM_015560.2(OPA1):c.1030A>C (p.Ser344Arg) rs1553877599
NM_015560.2(OPA1):c.1037G>A (p.Arg346Gln) rs1180256773
NM_015560.2(OPA1):c.1065+1G>T rs80356528
NM_015560.2(OPA1):c.1065+5G>A rs1057519244
NM_015560.2(OPA1):c.1066-53T>G
NM_015560.2(OPA1):c.1067_1068dup (p.Ala357fs) rs863225275
NM_015560.2(OPA1):c.1071A>G (p.Ala357=) rs150807064
NM_015560.2(OPA1):c.1096C>T (p.Arg366Ter) rs104893753
NM_015560.2(OPA1):c.1097G>A (p.Arg366Gln) rs535885178
NM_015560.2(OPA1):c.1137T>G (p.Pro379=) rs139861334
NM_015560.2(OPA1):c.113_130del (p.Arg38_Ser43del) rs863224140
NM_015560.2(OPA1):c.1140+1G>A rs745927258
NM_015560.2(OPA1):c.1146A>G (p.Ile382Met) rs143319805
NM_015560.2(OPA1):c.1158A>G (p.Val386=) rs1014702193
NM_015560.2(OPA1):c.1177A>C (p.Arg393=) rs149752576
NM_015560.2(OPA1):c.1187T>A (p.Leu396His) rs727504060
NM_015560.2(OPA1):c.1198C>T (p.Pro400Ser) rs1553877864
NM_015560.2(OPA1):c.1199C>T (p.Pro400Leu) rs794727069
NM_015560.2(OPA1):c.1202G>A (p.Gly401Asp) rs863225276
NM_015560.2(OPA1):c.1204G>A (p.Val402Met) rs879255594
NM_015560.2(OPA1):c.1208T>C (p.Ile403Thr) rs863224135
NM_015560.2(OPA1):c.1212+10T>C rs200114656
NM_015560.2(OPA1):c.1212+38A>T
NM_015560.2(OPA1):c.1212+5G>T rs863224136
NM_015560.2(OPA1):c.1212+5_1212+6delinsTC rs797044639
NM_015560.2(OPA1):c.1212+9A>G rs759086025
NM_015560.2(OPA1):c.1213-25G>C
NM_015560.2(OPA1):c.1224dup (p.Gly409fs) rs1553877912
NM_015560.2(OPA1):c.1233T>C (p.Ala411=) rs886043473
NM_015560.2(OPA1):c.1242A>C (p.Thr414=) rs1553877924
NM_015560.2(OPA1):c.1266C>G (p.Ser422Arg) rs1553877941
NM_015560.2(OPA1):c.1293_1295CAT[1] (p.Ile433del) rs879255511
NM_015560.2(OPA1):c.1294A>G (p.Ile432Val) rs387906899
NM_015560.2(OPA1):c.1301T>C (p.Leu434Pro) rs1553877946
NM_015560.2(OPA1):c.1310A>G (p.Gln437Arg) rs863225277
NM_015560.2(OPA1):c.1313-141G>A
NM_015560.2(OPA1):c.1316G>T (p.Gly439Val) rs387906900
NM_015560.2(OPA1):c.1325A>C (p.Asp442Ala) rs1064795743
NM_015560.2(OPA1):c.1333C>A (p.Arg445Ser) rs886043340
NM_015560.2(OPA1):c.1334G>A (p.Arg445His) rs80356529
NM_015560.2(OPA1):c.1334G>C (p.Arg445Pro) rs80356529
NM_015560.2(OPA1):c.1346del (p.Thr449fs) rs794729196
NM_015560.2(OPA1):c.1352del (p.Leu451fs) rs398124297
NM_015560.2(OPA1):c.1354del (p.Val452fs) rs879255512
NM_015560.2(OPA1):c.1380_1382del (p.Arg461del) rs1199056091
NM_015560.2(OPA1):c.1384A>C (p.Thr462Pro) rs1553878117
NM_015560.2(OPA1):c.1412T>C (p.Leu471Pro) rs1553878150
NM_015560.2(OPA1):c.1425T>A (p.Asn475Lys) rs863224137
NM_015560.2(OPA1):c.1443+295G>A
NM_015560.2(OPA1):c.1444-179G>A
NM_015560.2(OPA1):c.1462G>A (p.Gly488Arg) rs1553878554
NM_015560.2(OPA1):c.1501G>A (p.Val501Ile) rs1553878564
NM_015560.2(OPA1):c.1516+1G>C rs886041318
NM_015560.2(OPA1):c.1516+1G>T rs886041318
NM_015560.2(OPA1):c.1516+23A>G rs200416825
NM_015560.2(OPA1):c.1516+3A>G rs1553878573
NM_015560.2(OPA1):c.1516+5G>A rs1553878576
NM_015560.2(OPA1):c.1531delinsTTC (p.Ser511fs) rs1553878647
NM_015560.2(OPA1):c.1535T>C (p.Ile512Thr) rs148834015
NM_015560.2(OPA1):c.1549G>T (p.Glu517Ter)
NM_015560.2(OPA1):c.1557_1559AGA[1] (p.Glu521del) rs794727173
NM_015560.2(OPA1):c.1569del (p.Gln524fs) rs1560377736
NM_015560.2(OPA1):c.1572G>C (p.Gln524His) rs538099724
NM_015560.2(OPA1):c.1579A>C (p.Lys527Gln) rs766935532
NM_015560.2(OPA1):c.1589+106G>A
NM_015560.2(OPA1):c.1589+265A>G
NM_015560.2(OPA1):c.1590-6dup rs748933560
NM_015560.2(OPA1):c.1601T>G (p.Leu534Arg) rs869312995
NM_015560.2(OPA1):c.1608A>C (p.Ala536=) rs78767626
NM_015560.2(OPA1):c.1635C>A (p.Ser545Arg) rs398124298
NM_015560.2(OPA1):c.1635C>G (p.Ser545Arg) rs398124298
NM_015560.2(OPA1):c.1648G>T (p.Asp550Tyr) rs1131691441
NM_015560.2(OPA1):c.1649del (p.Asp550fs) rs1064794125
NM_015560.2(OPA1):c.1652G>A (p.Cys551Tyr) rs879255592
NM_015560.2(OPA1):c.1654T>C (p.Phe552Leu) rs1560380226
NM_015560.2(OPA1):c.1669C>T (p.Arg557Ter) rs398124299
NM_015560.2(OPA1):c.1669_1671del (p.Arg557del) rs1560380246
NM_015560.2(OPA1):c.1673A>C (p.Glu558Ala) rs949979832
NM_015560.2(OPA1):c.1703A>G (p.Lys568Arg) rs1553879126
NM_015560.2(OPA1):c.1705+17A>G rs749368763
NM_015560.2(OPA1):c.1705+1G>T rs879255595
NM_015560.2(OPA1):c.1706-19A>C rs1057522968
NM_015560.2(OPA1):c.1706C>A (p.Ala569Glu) rs1553879362
NM_015560.2(OPA1):c.1712G>A (p.Arg571His) rs140606054
NM_015560.2(OPA1):c.1745A>G (p.Tyr582Cys) rs121908376
NM_015560.2(OPA1):c.1770+16T>G rs9831772
NM_015560.2(OPA1):c.1770+3A>G rs398124300
NM_015560.2(OPA1):c.1771-21_1771-18del rs765277368
NM_015560.2(OPA1):c.1771-2A>G rs747454971
NM_015560.2(OPA1):c.1781T>C (p.Phe594Ser) rs886042514
NM_015560.2(OPA1):c.182A>G (p.Gln61Arg) rs558532319
NM_015560.2(OPA1):c.1841A>T (p.Lys614Ile) rs146601330
NM_015560.2(OPA1):c.1847+1G>C rs863224134
NM_015560.2(OPA1):c.1847+1G>T rs863224134
NM_015560.2(OPA1):c.1847+7A>G rs767488490
NM_015560.2(OPA1):c.1863A>G (p.Gln621=) rs773826671
NM_015560.2(OPA1):c.1880G>A (p.Arg627Lys) rs772040791
NM_015560.2(OPA1):c.1884A>G (p.Val628=) rs73069703
NM_015560.2(OPA1):c.1923G>A (p.Ala641=) rs138114609
NM_015560.2(OPA1):c.1934A>G (p.Asn645Ser) rs142694017
NM_015560.2(OPA1):c.1978T>C (p.Trp660Arg) rs1553881180
NM_015560.2(OPA1):c.2013+1G>A rs1560392160
NM_015560.2(OPA1):c.2014-81G>T
NM_015560.2(OPA1):c.2059_2060del (p.Glu687fs) rs794727345
NM_015560.2(OPA1):c.205C>G (p.Pro69Ala) rs750775588
NM_015560.2(OPA1):c.2064G>A (p.Pro688=) rs768448865
NM_015560.2(OPA1):c.2109T>C (p.Ala703=) rs9851685
NM_015560.2(OPA1):c.2124_2141del (p.Ser708_Trp714delinsArg) rs886043383
NM_015560.2(OPA1):c.212G>A (p.Arg71His) rs766106312
NM_015560.2(OPA1):c.2131C>T (p.Arg711Ter) rs863224906
NM_015560.2(OPA1):c.2166+10T>C rs371096629
NM_015560.2(OPA1):c.2166+115G>T
NM_015560.2(OPA1):c.2167-19C>A rs77355463
NM_015560.2(OPA1):c.2167-265T>G
NM_015560.2(OPA1):c.2197C>T (p.Arg733Ter) rs1553784985
NM_015560.2(OPA1):c.2241del (p.Phe747fs) rs1553785025
NM_015560.2(OPA1):c.2255T>C (p.Leu752Pro) rs1560035790
NM_015560.2(OPA1):c.2256G>T (p.Leu752=) rs148047706
NM_015560.2(OPA1):c.2257C>T (p.Gln753Ter) rs398124301
NM_015560.2(OPA1):c.2264G>A (p.Arg755His) rs762258708
NM_015560.2(OPA1):c.2276-134G>C
NM_015560.2(OPA1):c.2276-13T>A rs773828534
NM_015560.2(OPA1):c.2276-234G>A
NM_015560.2(OPA1):c.2276-4C>G rs763386320
NM_015560.2(OPA1):c.2276-4dup rs761286590
NM_015560.2(OPA1):c.2276-98T>C
NM_015560.2(OPA1):c.22G>T (p.Ala8Ser) rs794726939
NM_015560.2(OPA1):c.2334G>A (p.Trp778Ter) rs1553785338
NM_015560.2(OPA1):c.2341C>T (p.Arg781Trp) rs190235251
NM_015560.2(OPA1):c.2354A>G (p.Gln785Arg) rs1064797302
NM_015560.2(OPA1):c.2355+13A>G rs371943802
NM_015560.2(OPA1):c.2355+1G>A rs1553785362
NM_015560.2(OPA1):c.2355+4G>A
NM_015560.2(OPA1):c.2356-8T>G rs1064797303
NM_015560.2(OPA1):c.2382_2383del (p.Glu794fs) rs1560041195
NM_015560.2(OPA1):c.2386G>T (p.Glu796Ter) rs1553786499
NM_015560.2(OPA1):c.239A>G (p.Tyr80Cys)
NM_015560.2(OPA1):c.2427T>C (p.Leu809=) rs145999595
NM_015560.2(OPA1):c.2445C>T (p.Thr815=) rs139934030
NM_015560.2(OPA1):c.2452C>T (p.Arg818Trp) rs143252541
NM_015560.2(OPA1):c.245A>G (p.Tyr82Cys) rs749063844
NM_015560.2(OPA1):c.2470C>T (p.Arg824Ter) rs879255593
NM_015560.2(OPA1):c.2471G>A (p.Arg824Gln) rs200412464
NM_015560.2(OPA1):c.2496+1G>T rs794727392
NM_015560.2(OPA1):c.2496+306C>T
NM_015560.2(OPA1):c.2496+4_2496+5delinsGTAAC rs863224143
NM_015560.2(OPA1):c.253C>T (p.Arg85Cys) rs372435892
NM_015560.2(OPA1):c.254G>A (p.Arg85His) rs35630194
NM_015560.2(OPA1):c.2564T>G (p.Leu855Arg) rs139106405
NM_015560.2(OPA1):c.2569C>T (p.Arg857Ter) rs794727405
NM_015560.2(OPA1):c.256del (p.Arg86fs) rs1553871618
NM_015560.2(OPA1):c.2613+11C>G rs111688935
NM_015560.2(OPA1):c.2614-149T>C
NM_015560.2(OPA1):c.2647A>G (p.Ile883Val) rs149866497
NM_015560.2(OPA1):c.2651dup (p.Arg885fs) rs886043317
NM_015560.2(OPA1):c.2675A>C (p.Asn892Thr) rs750518068
NM_015560.2(OPA1):c.2707+15G>C rs199763700
NM_015560.2(OPA1):c.2707+178C>T
NM_015560.2(OPA1):c.2708-2A>G rs886041438
NM_015560.2(OPA1):c.2708_2711delTTAG rs80356530
NM_015560.2(OPA1):c.2715A>G (p.Arg905=) rs144898877
NM_015560.2(OPA1):c.2720A>G (p.Glu907Gly) rs863224138
NM_015560.2(OPA1):c.2727_2731del (p.Asn909fs) rs1553787992
NM_015560.2(OPA1):c.2729T>A (p.Val910Asp) rs387906901
NM_015560.2(OPA1):c.272C>G (p.Ala91Gly) rs1085307621
NM_015560.2(OPA1):c.2737G>T (p.Val913Leu) rs863224139
NM_015560.2(OPA1):c.2761_2774del (p.Asp920_Gly921insTer) rs1553788026
NM_015560.2(OPA1):c.2796C>T (p.Arg932=) rs35540805
NM_015560.2(OPA1):c.2797G>A (p.Val933Ile) rs375733283
NM_015560.2(OPA1):c.2808G>A (p.Ala936=) rs117475774
NM_015560.2(OPA1):c.2808G>C (p.Ala936=) rs117475774
NM_015560.2(OPA1):c.2818+206C>T
NM_015560.2(OPA1):c.2818+207A>G
NM_015560.2(OPA1):c.2818+3G>C rs1553788117
NM_015560.2(OPA1):c.2819-126T>C
NM_015560.2(OPA1):c.2819-250G>A
NM_015560.2(OPA1):c.2819-4A>G rs184273607
NM_015560.2(OPA1):c.2822_2823del (p.Lys941fs) rs886043136
NM_015560.2(OPA1):c.2825_2828del (p.Val942fs) rs879255560
NM_015560.2(OPA1):c.2826del (p.Arg943fs) rs80356531
NM_015560.2(OPA1):c.2848_2849del (p.Asp950fs) rs879255513
NM_015560.2(OPA1):c.2848_2854dup (p.Phe952Ter) rs1553797598
NM_015560.2(OPA1):c.2862A>C (p.Glu954Asp) rs189036094
NM_015560.2(OPA1):c.2883A>C (p.Ter961Tyr) rs143929819
NM_015560.2(OPA1):c.292_301del (p.Leu98fs) rs794727289
NM_015560.2(OPA1):c.32+14C>T rs201927764
NM_015560.2(OPA1):c.321G>A (p.Ser107=) rs117888848
NM_015560.2(OPA1):c.326T>C (p.Val109Ala)
NM_015560.2(OPA1):c.33-8T>C rs370303596
NM_015560.2(OPA1):c.339C>T (p.Tyr113=) rs779836454
NM_015560.2(OPA1):c.344C>T (p.Ala115Val) rs200983556
NM_015560.2(OPA1):c.420G>T (p.Val140=) rs35801538
NM_015560.2(OPA1):c.429T>C (p.Ile143=) rs761336580
NM_015560.2(OPA1):c.43C>A (p.Gln15Lys) rs75414918
NM_015560.2(OPA1):c.448+50A>G rs377239493
NM_015560.2(OPA1):c.449-21A>G rs75213840
NM_015560.2(OPA1):c.473G>A (p.Ser158Asn) rs7624750
NM_015560.2(OPA1):c.49T>A (p.Leu17Ile) rs760770105
NM_015560.2(OPA1):c.516T>G (p.Ile172Met) rs863224126
NM_015560.2(OPA1):c.530G>T (p.Ser177Ile) rs150279202
NM_015560.2(OPA1):c.531_533delinsATA (p.Ser177_Leu178delinsArgTer) rs863224141
NM_015560.2(OPA1):c.533T>A (p.Leu178Ter) rs727504058
NM_015560.2(OPA1):c.534A>G (p.Leu178=) rs758901451
NM_015560.2(OPA1):c.542A>G (p.Asp181Gly) rs138884045
NM_015560.2(OPA1):c.544T>C (p.Phe182Leu) rs769335936
NM_015560.2(OPA1):c.556+178G>T
NM_015560.2(OPA1):c.557-19T>C rs3772393
NM_015560.2(OPA1):c.557-233T>C
NM_015560.2(OPA1):c.557-668G>A rs983041061
NM_015560.2(OPA1):c.557-672G>A rs1553872542
NM_015560.2(OPA1):c.557-8_557-3del rs1553872701
NM_015560.2(OPA1):c.565G>A (p.Glu189Lys) rs569675223
NM_015560.2(OPA1):c.575C>T (p.Ala192Val) rs34307082
NM_015560.2(OPA1):c.599C>T (p.Ser200Phe) rs200243596
NM_015560.2(OPA1):c.6-13T>C rs1243357575
NM_015560.2(OPA1):c.624+235T>C
NM_015560.2(OPA1):c.624+296G>A
NM_015560.2(OPA1):c.624+2T>G rs1553872742
NM_015560.2(OPA1):c.625-4T>A rs374509936
NM_015560.2(OPA1):c.625-5524G>T rs757018661
NM_015560.2(OPA1):c.625-5527G>T rs373326620
NM_015560.2(OPA1):c.625-5528C>T rs114348597
NM_015560.2(OPA1):c.635_636del (p.Lys212fs) rs794727804
NM_015560.2(OPA1):c.637_638GA[1] (p.Lys214fs) rs863224142
NM_015560.2(OPA1):c.679-279G>A
NM_015560.2(OPA1):c.679-4G>A rs377043223
NM_015560.2(OPA1):c.687T>G (p.Tyr229Ter) rs863224128
NM_015560.2(OPA1):c.700G>T (p.Glu234Ter) rs1319065221
NM_015560.2(OPA1):c.703C>T (p.Arg235Ter) rs761743852
NM_015560.2(OPA1):c.70A>G (p.Ile24Val) rs201520438
NM_015560.2(OPA1):c.728T>A (p.Leu243Ter) rs863225274
NM_015560.2(OPA1):c.756C>T (p.Asp252=) rs147242797
NM_015560.2(OPA1):c.778C>G (p.Leu260Val)
NM_015560.2(OPA1):c.784-11A>C rs376681712
NM_015560.2(OPA1):c.784-12_784-11insTA rs544490050
NM_015560.2(OPA1):c.790_793TTGA[1] (p.Ile265fs) rs1064794208
NM_015560.2(OPA1):c.799A>G (p.Met267Val) rs938874214
NM_015560.2(OPA1):c.825C>T (p.Leu275=) rs201242590
NM_015560.2(OPA1):c.851C>T (p.Thr284Met)
NM_015560.2(OPA1):c.852G>A (p.Thr284=) rs758922394
NM_015560.2(OPA1):c.85C>G (p.Pro29Ala) rs145565705
NM_015560.2(OPA1):c.868C>T (p.Arg290Trp) rs780333963
NM_015560.2(OPA1):c.869G>A (p.Arg290Gln) rs121908375
NM_015560.2(OPA1):c.870+1G>A rs727504059
NM_015560.2(OPA1):c.870+32T>C rs10451941
NM_015560.2(OPA1):c.870+37A>C rs76253392
NM_015560.2(OPA1):c.870+4T>C rs166850
NM_015560.2(OPA1):c.870+5G>A rs754576717
NM_015560.2(OPA1):c.871-1G>A rs863224130
NM_015560.2(OPA1):c.871-1G>T
NM_015560.2(OPA1):c.871-6G>A rs1553876585
NM_015560.2(OPA1):c.871-8G>T rs367618769
NM_015560.2(OPA1):c.871-9T>C rs531187028
NM_015560.2(OPA1):c.871G>C (p.Val291Leu) rs1553876590
NM_015560.2(OPA1):c.872T>A (p.Val291Asp) rs1553876592
NM_015560.2(OPA1):c.880G>T (p.Val294Phe) rs863224131
NM_015560.2(OPA1):c.88C>T (p.Leu30=) rs185976555
NM_015560.2(OPA1):c.899G>A (p.Gly300Glu) rs28939082
NM_015560.2(OPA1):c.932C>A (p.Ala311Asp) rs398124302
NM_015560.2(OPA1):c.961A>G (p.Met321Val) rs863224132
NM_015560.2(OPA1):c.983A>G (p.Lys328Arg) rs398124303
NM_015560.2(OPA1):c.984G>T (p.Lys328Asn) rs1560365123
NM_015560.2(OPA1):c.985-1G>A rs879255510
NM_015560.2(OPA1):c.985-2A>G rs886041317
NM_015560.2(OPA1):c.[870+32T>C;870+4T=]
NM_130837.2(OPA1):c.1352T>G (p.Leu451Arg) rs727504060
NM_130837.2(OPA1):c.531C>A (p.Ser177Arg) rs727504057
NM_130837.2(OPA1):c.604_605del (p.Leu202fs) rs886043124
NM_130837.2(OPA1):c.706C>A (p.Gln236Lys)
NM_130837.2(OPA1):c.712C>G (p.Gln238Glu) rs1131691832
NM_130837.2(OPA1):c.740G>A (p.Arg247His) rs138350727
NM_130837.2(OPA1):c.748G>A (p.Ala250Thr) rs143918255

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