ClinVar Miner

List of variants in gene OPA1 studied for Autosomal dominant optic atrophy classic form

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Gene type:
ClinVar version:
Total variants: 184
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HGVS dbSNP gnomAD frequency
NM_130837.3(OPA1):c.1035+4T>C rs166850 0.88294
NM_130837.3(OPA1):c.*1343A>G rs1056366 0.65902
NM_130837.3(OPA1):c.*283A>G rs1061648 0.61309
NM_130837.3(OPA1):c.*1113C>T rs12630 0.54101
NM_130837.3(OPA1):c.473G>A (p.Ser158Asn) rs7624750 0.50224
NM_130837.3(OPA1):c.2274T>C (p.Ala758=) rs9851685 0.50117
NM_130837.3(OPA1):c.*2092C>T rs1056390 0.46950
NM_130837.3(OPA1):c.*2391T>C rs11719309 0.46817
NM_130837.3(OPA1):c.*2344A>G rs1056392 0.35025
NM_130837.3(OPA1):c.*2873A>T rs10419 0.10858
NM_130837.3(OPA1):c.*3027A>G rs56329083 0.06966
NM_130837.3(OPA1):c.2778+11C>G rs111688935 0.03759
NM_130837.3(OPA1):c.629C>T (p.Ala210Val) rs34307082 0.02411
NM_130837.3(OPA1):c.*2286T>C rs115575058 0.02406
NM_130837.3(OPA1):c.*2408A>G rs73069788 0.00927
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_130837.3(OPA1):c.2973G>A (p.Ala991=) rs117475774 0.00742
NM_130837.3(OPA1):c.*623G>A rs146468889 0.00689
NM_130837.3(OPA1):c.*1031A>T rs114606850 0.00670
NM_130837.3(OPA1):c.420G>T (p.Val140=) rs35801538 0.00577
NM_130837.3(OPA1):c.*220A>G rs76421015 0.00427
NM_130837.3(OPA1):c.1342A>C (p.Arg448=) rs149752576 0.00229
NM_130837.3(OPA1):c.43C>A (p.Gln15Lys) rs75414918 0.00229
NM_130837.3(OPA1):c.321G>A (p.Ser107=) rs117888848 0.00212
NM_130837.3(OPA1):c.*376A>G rs142349183 0.00211
NM_130837.3(OPA1):c.1236A>G (p.Ala412=) rs150807064 0.00179
NM_015560.2(OPA1):c.-172T>A rs146295726 0.00129
NM_130837.3(OPA1):c.239A>G (p.Tyr80Cys) rs151103940 0.00116
NM_130837.3(OPA1):c.2880A>G (p.Arg960=) rs144898877 0.00109
NM_130837.3(OPA1):c.*1919T>A rs867799524 0.00096
NM_130837.3(OPA1):c.*1920C>A rs868274533 0.00095
NM_130837.3(OPA1):c.*2993C>A rs143991575 0.00094
NM_130837.3(OPA1):c.949-11A>C rs376681712 0.00094
NM_130837.3(OPA1):c.*2416C>T rs539683627 0.00091
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.32+14C>T rs201927764 0.00054
NM_130837.3(OPA1):c.1302T>G (p.Pro434=) rs139861334 0.00050
NM_130837.3(OPA1):c.*1425G>A rs117826024 0.00049
NM_130837.3(OPA1):c.*1884C>T rs549889830 0.00046
NM_130837.3(OPA1):c.*694C>A rs190367068 0.00044
NM_130837.3(OPA1):c.*2283A>G rs886058259 0.00043
NM_130837.3(OPA1):c.*1039A>G rs548278496 0.00039
NM_130837.3(OPA1):c.2984-4A>G rs184273607 0.00039
NM_130837.3(OPA1):c.*863A>G rs193292545 0.00032
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.*2115G>A rs144079165 0.00021
NM_130837.3(OPA1):c.2592T>C (p.Leu864=) rs145999595 0.00020
NM_130837.3(OPA1):c.88C>T (p.Leu30=) rs185976555 0.00019
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.*622C>T rs750359704 0.00016
NM_130837.3(OPA1):c.530G>T (p.Ser177Ile) rs150279202 0.00016
NM_130837.3(OPA1):c.-8C>T rs371988066 0.00012
NM_130837.3(OPA1):c.*2839C>T rs867048244 0.00011
NM_130837.3(OPA1):c.*2902A>G rs1030937333 0.00011
NM_130837.3(OPA1):c.*322G>A rs886058257 0.00009
NM_130837.3(OPA1):c.-102G>A rs886058255 0.00009
NM_130837.3(OPA1):c.790-4T>A rs374509936 0.00009
NM_130837.3(OPA1):c.-144T>C rs1057509207 0.00008
NM_130837.3(OPA1):c.*2801A>G rs148268725 0.00006
NM_130837.3(OPA1):c.678+13G>C rs561115644 0.00006
NM_130837.3(OPA1):c.-3G>A rs964787052 0.00005
NM_130837.3(OPA1):c.2331+10T>C rs371096629 0.00005
NM_130837.3(OPA1):c.1016C>T (p.Thr339Met) rs141326740 0.00004
NM_130837.3(OPA1):c.2531A>G (p.Asn844Ser) rs200428940 0.00004
NM_130837.3(OPA1):c.253C>T (p.Arg85Cys) rs372435892 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_130837.3(OPA1):c.*1266G>A rs932178332 0.00003
NM_130837.3(OPA1):c.*1815T>C rs570796106 0.00003
NM_130837.3(OPA1):c.*2156A>G rs886058258 0.00003
NM_130837.3(OPA1):c.*2694T>A rs886058262 0.00003
NM_130837.3(OPA1):c.*56C>T rs564487151 0.00003
NM_130837.3(OPA1):c.*743G>C rs377022565 0.00003
NM_130837.3(OPA1):c.*403T>C rs779665090 0.00002
NM_130837.3(OPA1):c.*614A>G rs1321516515 0.00002
NM_130837.3(OPA1):c.1286G>A (p.Gly429Asp) rs146003075 0.00002
NM_130837.3(OPA1):c.1591G>A (p.Val531Ile) rs779722414 0.00002
NM_130837.3(OPA1):c.2962G>A (p.Val988Ile) rs375733283 0.00002
NM_130837.3(OPA1):c.556+2T>G rs762390227 0.00002
NM_130837.3(OPA1):c.740G>A (p.Arg247His) rs138350727 0.00002
NM_130837.3(OPA1):c.*1131C>T rs1004141070 0.00001
NM_130837.3(OPA1):c.*1581A>C rs976048011 0.00001
NM_130837.3(OPA1):c.*2241A>G rs778074372 0.00001
NM_130837.3(OPA1):c.*228A>G rs577816325 0.00001
NM_130837.3(OPA1):c.*2861A>G rs1456505503 0.00001
NM_130837.3(OPA1):c.*341G>T rs1042977453 0.00001
NM_130837.3(OPA1):c.-10C>T rs775614028 0.00001
NM_130837.3(OPA1):c.1036-9T>C rs531187028 0.00001
NM_130837.3(OPA1):c.1262G>A (p.Arg421Gln) rs535885178 0.00001
NM_130837.3(OPA1):c.212G>A (p.Arg71His) rs766106312 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.851A>G (p.Tyr284Cys) rs760177302 0.00001
NM_015560.2(OPA1):c.-182C>A rs532165115
NM_130837.3(OPA1):c.*1610C>A rs73069785
NM_130837.3(OPA1):c.*2170A>G rs921945798
NM_130837.3(OPA1):c.*2234G>A rs1577422301
NM_130837.3(OPA1):c.*260G>T rs886058256
NM_130837.3(OPA1):c.*2692G>A rs886058261
NM_130837.3(OPA1):c.*2909A>T rs886058263
NM_130837.3(OPA1):c.*3147G>C rs886058264
NM_130837.3(OPA1):c.*427A>T rs565230692
NM_130837.3(OPA1):c.*560T>C rs7643844
NM_130837.3(OPA1):c.1017G>A (p.Thr339=) rs758922394
NM_130837.3(OPA1):c.1034G>A (p.Arg345Gln) rs121908375
NM_130837.3(OPA1):c.1035+5G>A rs754576717
NM_130837.3(OPA1):c.1036G>C (p.Val346Leu) rs1553876590
NM_130837.3(OPA1):c.1051G>C (p.Asp351His) rs1577228080
NM_130837.3(OPA1):c.1064G>A (p.Gly355Glu) rs28939082
NM_130837.3(OPA1):c.1073G>A (p.Ser358Asn)
NM_130837.3(OPA1):c.1099C>T (p.Arg367Ter)
NM_130837.3(OPA1):c.1111A>G (p.Arg371Gly)
NM_130837.3(OPA1):c.112C>T (p.Arg38Ter) rs761460379
NM_130837.3(OPA1):c.1148A>G (p.Lys383Arg) rs398124303
NM_130837.3(OPA1):c.1149+3A>T rs1733207545
NM_130837.3(OPA1):c.114_115insG (p.Ser39fs)
NM_130837.3(OPA1):c.1150-1G>A rs879255510
NM_130837.3(OPA1):c.1230+1G>T rs80356528
NM_130837.3(OPA1):c.1230+5G>A rs1057519244
NM_130837.3(OPA1):c.1232_1233dup (p.Ala412fs) rs863225275
NM_130837.3(OPA1):c.1241_1245del (p.Leu414fs)
NM_130837.3(OPA1):c.1261C>T (p.Arg421Ter) rs104893753
NM_130837.3(OPA1):c.1288T>G (p.Cys430Gly) rs1313421147
NM_130837.3(OPA1):c.1348G>A (p.Val450Met)
NM_130837.3(OPA1):c.1367G>A (p.Gly456Asp) rs863225276
NM_130837.3(OPA1):c.1377+1G>T rs2109043749
NM_130837.3(OPA1):c.1377+6T>A
NM_130837.3(OPA1):c.1454A>T (p.Asn485Ile) rs1577243012
NM_130837.3(OPA1):c.1458CAT[1] (p.Ile488del) rs879255511
NM_130837.3(OPA1):c.1459A>G (p.Ile487Val) rs387906899
NM_130837.3(OPA1):c.1475A>G (p.Gln492Arg) rs863225277
NM_130837.3(OPA1):c.1499G>A (p.Arg500His) rs80356529
NM_130837.3(OPA1):c.1511C>G (p.Thr504Arg) rs1577244261
NM_130837.3(OPA1):c.1519del (p.Val507fs) rs879255512
NM_130837.3(OPA1):c.1606_1608+10delinsCAGTCCACAAATCT
NM_130837.3(OPA1):c.164dup (p.Leu55fs) rs1728771454
NM_130837.3(OPA1):c.1681+1G>T rs886041318
NM_130837.3(OPA1):c.1734dup (p.Gln579fs) rs1560377736
NM_130837.3(OPA1):c.1737G>C (p.Gln579His) rs538099724
NM_130837.3(OPA1):c.1889A>T (p.Glu630Val)
NM_130837.3(OPA1):c.1890_1891del (p.Glu630fs) rs1711513680
NM_130837.3(OPA1):c.1935+1G>C rs1711518217
NM_130837.3(OPA1):c.2051C>G (p.Ser684Ter) rs2109138909
NM_130837.3(OPA1):c.2142del (p.Gln714fs) rs2109139435
NM_130837.3(OPA1):c.2263_2268del (p.Leu755_Lys756del) rs755591067
NM_130837.3(OPA1):c.2293A>T (p.Lys765Ter) rs772382178
NM_130837.3(OPA1):c.2296C>T (p.Arg766Ter) rs863224906
NM_130837.3(OPA1):c.22G>T (p.Ala8Ser) rs794726939
NM_130837.3(OPA1):c.2315_2316del (p.Phe772fs) rs1577297114
NM_130837.3(OPA1):c.2524G>A (p.Val842Ile)
NM_130837.3(OPA1):c.2605del (p.Glu868_Ile869insTer)
NM_130837.3(OPA1):c.2661+1G>C
NM_130837.3(OPA1):c.2686del (p.Tyr896fs) rs2109253558
NM_130837.3(OPA1):c.2714dup (p.Asn906fs)
NM_130837.3(OPA1):c.2750dup (p.Tyr917Ter)
NM_130837.3(OPA1):c.2778+1G>A
NM_130837.3(OPA1):c.2779-9A>G rs1716524583
NM_130837.3(OPA1):c.2806del (p.Trp936fs)
NM_130837.3(OPA1):c.2819G>A (p.Arg940His)
NM_130837.3(OPA1):c.2869G>T (p.Glu957Ter)
NM_130837.3(OPA1):c.2873_2876del rs80356530
NM_130837.3(OPA1):c.2973G>C (p.Ala991=) rs117475774
NM_130837.3(OPA1):c.2983+6T>A rs1577335678
NM_130837.3(OPA1):c.2987A>C (p.Lys996Thr) rs1721758840
NM_130837.3(OPA1):c.2990_2993del (p.Val997fs) rs879255560
NM_130837.3(OPA1):c.2991del (p.Arg998fs) rs80356531
NM_130837.3(OPA1):c.2995G>T (p.Glu999Ter)
NM_130837.3(OPA1):c.3013_3014del (p.Asp1005fs) rs879255513
NM_130837.3(OPA1):c.357del (p.Phe119fs) rs1728905695
NM_130837.3(OPA1):c.437A>G (p.Tyr146Cys)
NM_130837.3(OPA1):c.544T>C (p.Phe182Leu) rs769335936
NM_130837.3(OPA1):c.70dup (p.Ile24fs)
NM_130837.3(OPA1):c.800_801del (p.Lys267fs) rs794727804
NM_130837.3(OPA1):c.868C>T (p.Arg290Ter) rs761743852
NM_130837.3(OPA1):c.880G>T (p.Glu294Ter)
NM_130837.3(OPA1):c.885C>G (p.Asn295Lys) rs750185470
NM_130837.3(OPA1):c.893T>A (p.Leu298Ter) rs863225274
NM_130837.3(OPA1):c.902T>G (p.Leu301Ter) rs1488795500
NM_130837.3(OPA1):c.985G>A (p.Val329Ile) rs1347426414
NM_130837.3(OPA1):c.990C>T (p.Leu330=) rs201242590

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