ClinVar Miner

List of variants in gene OPA1 studied for Dominant hereditary optic atrophy

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Gene type:
ClinVar version:
Total variants: 137
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HGVS dbSNP
NC_000003.12:g.193593196C>A
NC_000003.12:g.193593206T>A
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.*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.-8C>T rs371988066
NM_015560.2(OPA1):c.1065+1G>T rs80356528
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.1123T>G (p.Cys375Gly) rs1313421147
NM_015560.2(OPA1):c.1137T>G (p.Pro379=) rs139861334
NM_015560.2(OPA1):c.1146A>G (p.Ile382Met) rs143319805
NM_015560.2(OPA1):c.1177A>C (p.Arg393=) rs149752576
NM_015560.2(OPA1):c.1202G>A (p.Gly401Asp) rs863225276
NM_015560.2(OPA1):c.1289A>T (p.Asn430Ile) rs1577243012
NM_015560.2(OPA1):c.1310A>G (p.Gln437Arg) rs863225277
NM_015560.2(OPA1):c.1346C>G (p.Thr449Arg) rs1577244261
NM_015560.2(OPA1):c.1354del (p.Val452fs) rs879255512
NM_015560.2(OPA1):c.1572G>C (p.Gln524His) rs538099724
NM_015560.2(OPA1):c.1608A>C (p.Ala536=) rs78767626
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.2109T>C (p.Ala703=) rs9851685
NM_015560.2(OPA1):c.2131C>T (p.Arg711Ter) rs863224906
NM_015560.2(OPA1):c.2150_2151del (p.Phe717fs) rs1577297114
NM_015560.2(OPA1):c.2166+10T>C rs371096629
NM_015560.2(OPA1):c.22G>T (p.Ala8Ser) rs794726939
NM_015560.2(OPA1):c.2341C>T (p.Arg781Trp) rs190235251
NM_015560.2(OPA1):c.239A>G (p.Tyr80Cys) rs151103940
NM_015560.2(OPA1):c.2427T>C (p.Leu809=) rs145999595
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.2613+11C>G rs111688935
NM_015560.2(OPA1):c.2708_2711delTTAG rs80356530
NM_015560.2(OPA1):c.2715A>G (p.Arg905=) rs144898877
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+6T>A rs1577335678
NM_015560.2(OPA1):c.2819-4A>G rs184273607
NM_015560.2(OPA1):c.2826del (p.Arg943fs) rs80356531
NM_015560.2(OPA1):c.2848_2849del (p.Asp950fs) rs879255513
NM_015560.2(OPA1):c.32+14C>T rs201927764
NM_015560.2(OPA1):c.321G>A (p.Ser107=) rs117888848
NM_015560.2(OPA1):c.339C>T (p.Tyr113=) rs779836454
NM_015560.2(OPA1):c.420G>T (p.Val140=) rs35801538
NM_015560.2(OPA1):c.43C>A (p.Gln15Lys) rs75414918
NM_015560.2(OPA1):c.473G>A (p.Ser158Asn) rs7624750
NM_015560.2(OPA1):c.530G>T (p.Ser177Ile) rs150279202
NM_015560.2(OPA1):c.544T>C (p.Phe182Leu) rs769335936
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.625-4T>A rs374509936
NM_015560.2(OPA1):c.625-5459G>A rs138350727
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.784-11A>C rs376681712
NM_015560.2(OPA1):c.825C>T (p.Leu275=) rs201242590
NM_015560.2(OPA1):c.852G>A (p.Thr284=) rs758922394
NM_015560.2(OPA1):c.869G>A (p.Arg290Gln) rs121908375
NM_015560.2(OPA1):c.870+5G>A rs754576717
NM_015560.2(OPA1):c.871-9T>C rs531187028
NM_015560.2(OPA1):c.871G>C (p.Val291Leu) rs1553876590
NM_015560.2(OPA1):c.886G>C (p.Asp296His) rs1577228080
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.983A>G (p.Lys328Arg) rs398124303
NM_015560.2(OPA1):c.985-1G>A rs879255510
NM_015560.3(OPA1):c.*1039A>G
NM_015560.3(OPA1):c.*1131C>T
NM_015560.3(OPA1):c.*1266G>A
NM_015560.3(OPA1):c.*1581A>C
NM_015560.3(OPA1):c.*1884C>T
NM_015560.3(OPA1):c.*1920C>A
NM_015560.3(OPA1):c.*2170A>G
NM_015560.3(OPA1):c.*2234G>A
NM_015560.3(OPA1):c.*228A>G
NM_015560.3(OPA1):c.*2801A>G
NM_015560.3(OPA1):c.*2839C>T
NM_015560.3(OPA1):c.*2861A>G
NM_015560.3(OPA1):c.*2902A>G
NM_015560.3(OPA1):c.*341G>T
NM_015560.3(OPA1):c.*403T>C
NM_015560.3(OPA1):c.*427A>T
NM_015560.3(OPA1):c.*614A>G
NM_015560.3(OPA1):c.*743G>C
NM_015560.3(OPA1):c.-144T>C
NM_015560.3(OPA1):c.-3G>A
NM_015560.3(OPA1):c.1121G>A (p.Gly374Asp)
NM_015560.3(OPA1):c.1426G>A (p.Val476Ile)
NM_015560.3(OPA1):c.1674G>A (p.Glu558=)
NM_015560.3(OPA1):c.2366A>G (p.Asn789Ser)
NM_015560.3(OPA1):c.2851G>A (p.Ala951Thr)
NM_015560.3(OPA1):c.556+2T>G
NM_015560.3(OPA1):c.563C>T (p.Pro188Leu)
NM_015560.3(OPA1):c.624+13G>C
NM_015560.3(OPA1):c.686A>G (p.Tyr229Cys)
NM_015560.3(OPA1):c.820G>A (p.Val274Ile)
NM_015560.3(OPA1):c.870+4T>C rs166850
NM_130831.3(OPA1):c.1185_1187CAT[1] (p.Ile397del) rs879255511
NM_130831.3(OPA1):c.2717_2720del (p.Val906fs) rs879255560

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