ClinVar Miner

List of variants in gene OPA1 reported as pathogenic for Autosomal dominant optic atrophy classic form

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Total variants: 22
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HGVS dbSNP
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.1146A>G (p.Ile382Met) rs143319805
NM_015560.2(OPA1):c.1202G>A (p.Gly401Asp) rs863225276
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.2150_2151del (p.Phe717fs) rs1577297114
NM_015560.2(OPA1):c.2708_2711delTTAG rs80356530
NM_015560.2(OPA1):c.2826del (p.Arg943fs) rs80356531
NM_015560.2(OPA1):c.2848_2849del (p.Asp950fs) rs879255513
NM_015560.2(OPA1):c.625-5459G>A rs138350727
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.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_130831.3(OPA1):c.2717_2720del (p.Val906fs) rs879255560
NM_130837.3(OPA1):c.1458CAT[1] (p.Ile488del) rs879255511
NM_130837.3(OPA1):c.1734dup (p.Gln579fs)
NM_130837.3(OPA1):c.902T>G (p.Leu301Ter)

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