ClinVar Miner

List of variants in gene OPA1 reported as pathogenic

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Gene type:
ClinVar version:
Total variants: 208
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HGVS dbSNP gnomAD frequency
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met) rs143319805 0.00056
NM_130837.3(OPA1):c.1150-2A>G rs886041317 0.00001
NM_130837.3(OPA1):c.1555T>C (p.Phe519Leu) rs757786063 0.00001
NM_130837.3(OPA1):c.1936-2A>G rs747454971 0.00001
NM_130837.3(OPA1):c.2178+1G>A rs1560392160 0.00001
NM_130837.3(OPA1):c.533T>A (p.Leu178Ter) rs727504058 0.00001
GRCh37/hg19 3q29(chr3:193331148-193415325)x1
GRCh37/hg19 3q29(chr3:193355741-193355854)x1
NC_000003.11:g.(?_193311167)_(193311218_?)del
NC_000003.11:g.(?_193332492)_(193336745_?)del
NC_000003.11:g.(?_193332492)_(193409916_?)del
NC_000003.11:g.(?_193336638)_(193344011_?)del
NC_000003.11:g.(?_193354964)_(193355090_?)del
NC_000003.11:g.(?_193360534)_(193361914_?)del
NC_000003.11:g.(?_193380591)_(193385089_?)del
NC_000003.11:g.(?_193382649)_(193384198_?)del
NC_000003.11:g.(?_193382649)_(193385089_?)del
NC_000003.11:g.(?_193409832)_(193409916_?)del
NC_000003.12:g.193645729del rs2109058653
NM_015560.2(OPA1):c.985del rs2109039412
NM_130837.3(OPA1):c.1015dup (p.Thr339fs)
NM_130837.3(OPA1):c.1031_1035del (p.Pro344fs)
NM_130837.3(OPA1):c.1034G>A (p.Arg345Gln) rs121908375
NM_130837.3(OPA1):c.1035+1G>A rs727504059
NM_130837.3(OPA1):c.1035+1G>T
NM_130837.3(OPA1):c.1035+2del rs1577226484
NM_130837.3(OPA1):c.1035+5G>A rs754576717
NM_130837.3(OPA1):c.1038TGT[1] (p.Val349del)
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.1067del (p.Lys356fs)
NM_130837.3(OPA1):c.1089del (p.Ile363fs)
NM_130837.3(OPA1):c.1099C>T (p.Arg367Ter)
NM_130837.3(OPA1):c.112C>T (p.Arg38Ter) rs761460379
NM_130837.3(OPA1):c.1133C>T (p.Thr378Ile)
NM_130837.3(OPA1):c.1148A>G (p.Lys383Arg) rs398124303
NM_130837.3(OPA1):c.1149G>A (p.Lys383=) rs1560365123
NM_130837.3(OPA1):c.1150-1G>A rs879255510
NM_130837.3(OPA1):c.1157dup (p.Ser387fs) rs1733978179
NM_130837.3(OPA1):c.1178dup (p.Ala394fs)
NM_130837.3(OPA1):c.1183del (p.Leu395fs)
NM_130837.3(OPA1):c.1214_1215dup (p.Thr406fs) rs2109039751
NM_130837.3(OPA1):c.1230+1G>A rs80356528
NM_130837.3(OPA1):c.1261C>T (p.Arg421Ter) rs104893753
NM_130837.3(OPA1):c.1305+1G>A rs745927258
NM_130837.3(OPA1):c.1305+1G>C
NM_130837.3(OPA1):c.1305+1G>T
NM_130837.3(OPA1):c.1352T>A (p.Leu451His) rs727504060
NM_130837.3(OPA1):c.1352T>G (p.Leu451Arg) rs727504060
NM_130837.3(OPA1):c.1359del (p.Leu454fs) rs2109043623
NM_130837.3(OPA1):c.1363C>T (p.Pro455Ser) rs1553877864
NM_130837.3(OPA1):c.1364C>T (p.Pro455Leu) rs794727069
NM_130837.3(OPA1):c.1366G>C (p.Gly456Arg)
NM_130837.3(OPA1):c.1369G>A (p.Val457Met) rs879255594
NM_130837.3(OPA1):c.1377+1G>A
NM_130837.3(OPA1):c.1377+1G>T rs2109043749
NM_130837.3(OPA1):c.1377+4del rs2109043753
NM_130837.3(OPA1):c.1377+5G>T rs863224136
NM_130837.3(OPA1):c.1377_1377+4del rs1577242473
NM_130837.3(OPA1):c.1382_1383del (p.Val461fs) rs2109044278
NM_130837.3(OPA1):c.1389dup (p.Gly464fs) rs1553877912
NM_130837.3(OPA1):c.1406_1407del (p.Thr469fs)
NM_130837.3(OPA1):c.1408A>G (p.Lys470Glu) rs2109044398
NM_130837.3(OPA1):c.1443dup (p.Gln482fs) rs2109044547
NM_130837.3(OPA1):c.1444C>T (p.Gln482Ter)
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.1461_1465dup (p.Leu489fs)
NM_130837.3(OPA1):c.1469_1470del (p.Cys490fs)
NM_130837.3(OPA1):c.1475A>G (p.Gln492Arg) rs863225277
NM_130837.3(OPA1):c.1478A>T (p.Asp493Val) rs1734162973
NM_130837.3(OPA1):c.1481G>T (p.Gly494Val) rs387906900
NM_130837.3(OPA1):c.1499G>A (p.Arg500His) rs80356529
NM_130837.3(OPA1):c.1499G>C (p.Arg500Pro) rs80356529
NM_130837.3(OPA1):c.1511C>G (p.Thr504Arg) rs1577244261
NM_130837.3(OPA1):c.1517del (p.Leu506fs) rs398124297
NM_130837.3(OPA1):c.1519del (p.Val507fs) rs879255512
NM_130837.3(OPA1):c.154C>T (p.Arg52Ter) rs1560327427
NM_130837.3(OPA1):c.1551del (p.Ile518fs)
NM_130837.3(OPA1):c.1567A>G (p.Lys523Glu)
NM_130837.3(OPA1):c.1575_1608+4del rs1734176382
NM_130837.3(OPA1):c.1581del (p.Glu528fs) rs2109047342
NM_130837.3(OPA1):c.1606_1608+10delinsCAGTCCACAAATCT
NM_130837.3(OPA1):c.1608+1G>A
NM_130837.3(OPA1):c.1612C>T (p.Gln538Ter) rs2109057450
NM_130837.3(OPA1):c.1681+1G>C rs886041318
NM_130837.3(OPA1):c.1681+1G>T rs886041318
NM_130837.3(OPA1):c.1681+3A>G rs1553878573
NM_130837.3(OPA1):c.1696delinsTTC (p.Ser566fs) rs1553878647
NM_130837.3(OPA1):c.1714G>T (p.Glu572Ter) rs748215343
NM_130837.3(OPA1):c.1734del (p.Gln579fs) rs1560377736
NM_130837.3(OPA1):c.1734dup (p.Gln579fs) rs1560377736
NM_130837.3(OPA1):c.1754+2T>G
NM_130837.3(OPA1):c.178del (p.Gln60fs)
NM_130837.3(OPA1):c.1899G>A (p.Trp633Ter) rs1711514692
NM_130837.3(OPA1):c.1909_1912del (p.Tyr637fs)
NM_130837.3(OPA1):c.1910A>G (p.Tyr637Cys) rs121908376
NM_130837.3(OPA1):c.1935+1G>C rs1711518217
NM_130837.3(OPA1):c.1948dup (p.Glu650fs) rs2109083754
NM_130837.3(OPA1):c.1979_1980del (p.Val660fs) rs2109083888
NM_130837.3(OPA1):c.198_201del (p.Asn67fs)
NM_130837.3(OPA1):c.2012+1G>C rs863224134
NM_130837.3(OPA1):c.2012+1G>T rs863224134
NM_130837.3(OPA1):c.2035_2036del (p.Leu679fs)
NM_130837.3(OPA1):c.2046_2047del (p.Arg682fs)
NM_130837.3(OPA1):c.2057_2058del (p.His686fs) rs1713427542
NM_130837.3(OPA1):c.2140C>T (p.Gln714Ter)
NM_130837.3(OPA1):c.2155C>T (p.Gln719Ter) rs2109139510
NM_130837.3(OPA1):c.2179-1G>A rs2109163061
NM_130837.3(OPA1):c.2179-1G>C
NM_130837.3(OPA1):c.2197del (p.Gln733fs) rs2109163111
NM_130837.3(OPA1):c.2213del (p.Arg738fs) rs2109163266
NM_130837.3(OPA1):c.2224_2225del (p.Glu742fs) rs794727345
NM_130837.3(OPA1):c.2253_2254del (p.Ile751_Phe752insTer)
NM_130837.3(OPA1):c.2284G>T (p.Glu762Ter) rs2109163970
NM_130837.3(OPA1):c.2287del (p.Ser763fs) rs1219753329
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.2315_2316del (p.Phe772fs) rs1577297114
NM_130837.3(OPA1):c.232del (p.Ile78fs)
NM_130837.3(OPA1):c.2362C>T (p.Arg788Ter) rs1553784985
NM_130837.3(OPA1):c.2406del (p.Phe802fs) rs1553785025
NM_130837.3(OPA1):c.2422C>T (p.Gln808Ter) rs398124301
NM_130837.3(OPA1):c.2440+1G>A
NM_130837.3(OPA1):c.2478G>A (p.Trp826Ter)
NM_130837.3(OPA1):c.2499G>A (p.Trp833Ter) rs1553785338
NM_130837.3(OPA1):c.2512dup (p.Gln838fs) rs1714725151
NM_130837.3(OPA1):c.2520+1G>A rs1553785362
NM_130837.3(OPA1):c.2538del (p.Lys847fs)
NM_130837.3(OPA1):c.2547_2548del (p.Glu849fs) rs1560041195
NM_130837.3(OPA1):c.256del (p.Arg86fs) rs1553871618
NM_130837.3(OPA1):c.2572G>T (p.Glu858Ter)
NM_130837.3(OPA1):c.2605del (p.Glu868_Ile869insTer)
NM_130837.3(OPA1):c.2631del (p.Glu877fs)
NM_130837.3(OPA1):c.2635C>T (p.Arg879Ter) rs879255593
NM_130837.3(OPA1):c.2661+1G>A rs794727392
NM_130837.3(OPA1):c.2661+1G>T rs794727392
NM_130837.3(OPA1):c.2661+4_2661+5delinsGTAAC rs863224143
NM_130837.3(OPA1):c.2664_2665delinsAT (p.Lys889Ter)
NM_130837.3(OPA1):c.2685_2686del (p.Val895_Tyr896insTer)
NM_130837.3(OPA1):c.2686del (p.Tyr896fs) rs2109253558
NM_130837.3(OPA1):c.2702dup (p.Leu901fs) rs2109253692
NM_130837.3(OPA1):c.2734C>T (p.Arg912Ter) rs794727405
NM_130837.3(OPA1):c.2750dup (p.Tyr917Ter)
NM_130837.3(OPA1):c.2751C>G (p.Tyr917Ter) rs1577327315
NM_130837.3(OPA1):c.2755C>T (p.Gln919Ter)
NM_130837.3(OPA1):c.2779-2A>G
NM_130837.3(OPA1):c.2779-2A>T rs2109267841
NM_130837.3(OPA1):c.2779-9A>G rs1716524583
NM_130837.3(OPA1):c.2787C>A (p.Cys929Ter)
NM_130837.3(OPA1):c.2815C>T (p.Gln939Ter) rs2109268057
NM_130837.3(OPA1):c.2816dup (p.Arg940fs) rs886043317
NM_130837.3(OPA1):c.2853dup (p.Gln952fs)
NM_130837.3(OPA1):c.2861del (p.Thr954fs)
NM_130837.3(OPA1):c.2869G>T (p.Glu957Ter)
NM_130837.3(OPA1):c.2873-2A>G rs886041438
NM_130837.3(OPA1):c.2873_2876del rs80356530
NM_130837.3(OPA1):c.2885_2983+8del
NM_130837.3(OPA1):c.2892_2896del (p.Asn964fs) rs1553787992
NM_130837.3(OPA1):c.2894T>A (p.Val965Asp) rs387906901
NM_130837.3(OPA1):c.2926_2939del (p.Asp975_Gly976insTer) rs1553788026
NM_130837.3(OPA1):c.292_301del (p.Leu98fs) rs794727289
NM_130837.3(OPA1):c.2935A>T (p.Lys979Ter)
NM_130837.3(OPA1):c.2940del (p.Lys981fs) rs2109277786
NM_130837.3(OPA1):c.2962_2966del (p.Val988fs) rs1716781226
NM_130837.3(OPA1):c.2971dup (p.Ala991fs)
NM_130837.3(OPA1):c.2983+5G>A
NM_130837.3(OPA1):c.2984-1_2986del rs2109460398
NM_130837.3(OPA1):c.2987_2988del (p.Lys996fs) rs886043136
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.3003dup (p.Glu1002fs) rs2109460493
NM_130837.3(OPA1):c.3013_3014del (p.Asp1005fs) rs879255513
NM_130837.3(OPA1):c.3013_3019dup (p.Phe1007Ter) rs1553797598
NM_130837.3(OPA1):c.320C>A (p.Ser107Ter)
NM_130837.3(OPA1):c.336del (p.Tyr113fs)
NM_130837.3(OPA1):c.357del (p.Phe119fs) rs1728905695
NM_130837.3(OPA1):c.365G>A (p.Trp122Ter)
NM_130837.3(OPA1):c.3G>A (p.Met1Ile) rs1724946838
NM_130837.3(OPA1):c.401G>A (p.Trp134Ter) rs2108869161
NM_130837.3(OPA1):c.448+1G>A
NM_130837.3(OPA1):c.460A>T (p.Lys154Ter)
NM_130837.3(OPA1):c.507dup (p.Asp170Ter)
NM_130837.3(OPA1):c.531_533delinsATA (p.Ser177_Leu178delinsArgTer) rs863224141
NM_130837.3(OPA1):c.556+1G>A rs1577162868
NM_130837.3(OPA1):c.610+360G>A rs1553872542
NM_130837.3(OPA1):c.610+364G>A rs983041061
NM_130837.3(OPA1):c.629_631delinsGC (p.Ala210fs) rs2108889206
NM_130837.3(OPA1):c.678+2T>G rs1553872742
NM_130837.3(OPA1):c.70dup (p.Ile24fs)
NM_130837.3(OPA1):c.796_799del (p.Asp266fs)
NM_130837.3(OPA1):c.7C>T (p.Arg3Ter)
NM_130837.3(OPA1):c.800_801del (p.Lys267fs) rs794727804
NM_130837.3(OPA1):c.804_805del (p.Lys269fs) rs863224142
NM_130837.3(OPA1):c.820C>T (p.Gln274Ter) rs1732086609
NM_130837.3(OPA1):c.832del (p.Leu278fs) rs2108979504
NM_130837.3(OPA1):c.852T>G (p.Tyr284Ter) rs863224128
NM_130837.3(OPA1):c.868C>T (p.Arg290Ter) rs761743852
NM_130837.3(OPA1):c.872T>G (p.Leu291Ter)
NM_130837.3(OPA1):c.902T>G (p.Leu301Ter) rs1488795500
NM_130837.3(OPA1):c.937A>T (p.Arg313Ter) rs2109002680
NM_130837.3(OPA1):c.93_96dup (p.Leu33fs) rs1728761079
NM_130837.3(OPA1):c.949-1G>A
NM_130837.3(OPA1):c.949-1G>C rs1733081846
NM_130837.3(OPA1):c.949-2A>T
NM_130837.3(OPA1):c.959_962del (p.Ile320fs) rs1064794208
NM_130837.3(OPA1):c.992_993del (p.Leu330_Ser331insTer)

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