ClinVar Miner

List of variants in gene OPA1 reported as pathogenic

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Gene type:
ClinVar version:
Total variants: 112
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HGVS dbSNP
GRCh37/hg19 3q29(chr3:193331148-193415325)x1
NC_000003.11:g.193363516delG
NM_001354663.2(OPA1):c.-81_-72del rs794727289
NM_015560.2(OPA1):c.1065+1G>T rs80356528
NM_015560.2(OPA1):c.1067_1068dup (p.Ala357fs) rs863225275
NM_015560.2(OPA1):c.1096C>T (p.Arg366Ter) rs104893753
NM_015560.2(OPA1):c.112C>T (p.Arg38Ter) rs761460379
NM_015560.2(OPA1):c.1140+1G>A rs745927258
NM_015560.2(OPA1):c.1146A>G (p.Ile382Met) rs143319805
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.1202G>A (p.Gly401Asp) rs863225276
NM_015560.2(OPA1):c.1204G>A (p.Val402Met) rs879255594
NM_015560.2(OPA1):c.1212+5G>T rs863224136
NM_015560.2(OPA1):c.1212_1212+4del rs1577242473
NM_015560.2(OPA1):c.1224dup (p.Gly409fs) rs1553877912
NM_015560.2(OPA1):c.1294A>G (p.Ile432Val) rs387906899
NM_015560.2(OPA1):c.1310A>G (p.Gln437Arg) rs863225277
NM_015560.2(OPA1):c.1316G>T (p.Gly439Val) rs387906900
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.1346C>G (p.Thr449Arg) rs1577244261
NM_015560.2(OPA1):c.1352del (p.Leu451fs) rs398124297
NM_015560.2(OPA1):c.1354del (p.Val452fs) rs879255512
NM_015560.2(OPA1):c.1516+1G>C rs886041318
NM_015560.2(OPA1):c.1516+1G>T rs886041318
NM_015560.2(OPA1):c.1531delinsTTC (p.Ser511fs) rs1553878647
NM_015560.2(OPA1):c.1549G>T (p.Glu517Ter) rs748215343
NM_015560.2(OPA1):c.1569del (p.Gln524fs) rs1560377736
NM_015560.2(OPA1):c.1601T>G (p.Leu534Arg) rs869312995
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.1649del (p.Asp550fs) rs1064794125
NM_015560.2(OPA1):c.1652G>A (p.Cys551Tyr) rs879255592
NM_015560.2(OPA1):c.1669C>T (p.Arg557Ter) rs398124299
NM_015560.2(OPA1):c.1705+1G>T rs879255595
NM_015560.2(OPA1):c.1745A>G (p.Tyr582Cys) rs121908376
NM_015560.2(OPA1):c.1771-2A>G rs747454971
NM_015560.2(OPA1):c.1847+1G>C rs863224134
NM_015560.2(OPA1):c.2013+1G>A rs1560392160
NM_015560.2(OPA1):c.2059_2060del (p.Glu687fs) rs794727345
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.2197C>T (p.Arg733Ter) rs1553784985
NM_015560.2(OPA1):c.2241del (p.Phe747fs) rs1553785025
NM_015560.2(OPA1):c.2257C>T (p.Gln753Ter) rs398124301
NM_015560.2(OPA1):c.2334G>A (p.Trp778Ter) rs1553785338
NM_015560.2(OPA1):c.2355+1G>A rs1553785362
NM_015560.2(OPA1):c.2382_2383del (p.Glu794fs) rs1560041195
NM_015560.2(OPA1):c.2470C>T (p.Arg824Ter) rs879255593
NM_015560.2(OPA1):c.2496+1G>T rs794727392
NM_015560.2(OPA1):c.2496+4_2496+5delinsGTAAC rs863224143
NM_015560.2(OPA1):c.2569C>T (p.Arg857Ter) rs794727405
NM_015560.2(OPA1):c.256del (p.Arg86fs) rs1553871618
NM_015560.2(OPA1):c.2586C>G (p.Tyr862Ter) rs1577327315
NM_015560.2(OPA1):c.2651dup (p.Arg885fs) rs886043317
NM_015560.2(OPA1):c.2708-2A>G rs886041438
NM_015560.2(OPA1):c.2708_2711delTTAG rs80356530
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.2761_2774del (p.Asp920_Gly921insTer) rs1553788026
NM_015560.2(OPA1):c.2822_2823del (p.Lys941fs) rs886043136
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.557-668G>A rs983041061
NM_015560.2(OPA1):c.624+2T>G rs1553872742
NM_015560.2(OPA1):c.625-5459G>A rs138350727
NM_015560.2(OPA1):c.687T>G (p.Tyr229Ter) rs863224128
NM_015560.2(OPA1):c.703C>T (p.Arg235Ter) rs761743852
NM_015560.2(OPA1):c.728T>A (p.Leu243Ter) rs863225274
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+2del rs1577226484
NM_015560.2(OPA1):c.870+5G>A rs754576717
NM_015560.2(OPA1):c.871-1G>A rs863224130
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_015560.2(OPA1):c.985-2A>G rs886041317
NM_015560.2:c.985del
NM_130831.3(OPA1):c.1079T>G (p.Leu360Arg) rs727504060
NM_130831.3(OPA1):c.2717_2720del (p.Val906fs) rs879255560
NM_130831.3(OPA1):c.448+1490_448+1492delinsATA rs863224141
NM_130831.3(OPA1):c.448+1492T>A rs727504058
NM_130831.3(OPA1):c.527_528del (p.Lys176fs) rs794727804
NM_130836.3(OPA1):c.556+1G>A rs1577162868
NM_130837.2(OPA1):c.1051G>C (p.Asp351His) rs1577228080
NM_130837.3(OPA1):c.1157dup (p.Ser387fs)
NM_130837.3(OPA1):c.1230+1G>A
NM_130837.3(OPA1):c.1458CAT[1] (p.Ile488del) rs879255511
NM_130837.3(OPA1):c.1478A>T (p.Asp493Val)
NM_130837.3(OPA1):c.154C>T (p.Arg52Ter)
NM_130837.3(OPA1):c.1575_1608+4del
NM_130837.3(OPA1):c.1734dup (p.Gln579fs)
NM_130837.3(OPA1):c.1899G>A (p.Trp633Ter)
NM_130837.3(OPA1):c.1935+1G>C
NM_130837.3(OPA1):c.2057_2058del (p.His686fs)
NM_130837.3(OPA1):c.2197del (p.Gln733fs)
NM_130837.3(OPA1):c.2287del (p.Ser763fs)
NM_130837.3(OPA1):c.2512dup (p.Gln838fs)
NM_130837.3(OPA1):c.2661+1G>A
NM_130837.3(OPA1):c.2779-9A>G
NM_130837.3(OPA1):c.2962_2966del (p.Val988fs)
NM_130837.3(OPA1):c.804_805del (p.Lys269fs) rs863224142
NM_130837.3(OPA1):c.820C>T (p.Gln274Ter)
NM_130837.3(OPA1):c.832del (p.Leu278fs)
NM_130837.3(OPA1):c.902T>G (p.Leu301Ter)
NM_130837.3(OPA1):c.93_96dup (p.Leu33fs)
NM_130837.3(OPA1):c.949-1G>C
NM_130837.3(OPA1):c.959_962del (p.Ile320fs) rs1064794208
Single allele

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