ClinVar Miner

List of variants in gene OPA1 reported as pathogenic by EGL Genetic Diagnostics, Eurofins Clinical Diagnostics

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Total variants: 29
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HGVS dbSNP
NM_001354663.2(OPA1):c.-81_-72del rs794727289
NM_015560.2(OPA1):c.1096C>T (p.Arg366Ter) rs104893753
NM_015560.2(OPA1):c.1140+1G>A rs745927258
NM_015560.2(OPA1):c.1224dup (p.Gly409fs) rs1553877912
NM_015560.2(OPA1):c.1334G>A (p.Arg445His) rs80356529
NM_015560.2(OPA1):c.1352del (p.Leu451fs) rs398124297
NM_015560.2(OPA1):c.1531delinsTTC (p.Ser511fs) rs1553878647
NM_015560.2(OPA1):c.1635C>A (p.Ser545Arg) rs398124298
NM_015560.2(OPA1):c.1669C>T (p.Arg557Ter) rs398124299
NM_015560.2(OPA1):c.1771-2A>G rs747454971
NM_015560.2(OPA1):c.2013+1G>A rs1560392160
NM_015560.2(OPA1):c.2059_2060del (p.Glu687fs) rs794727345
NM_015560.2(OPA1):c.2257C>T (p.Gln753Ter) rs398124301
NM_015560.2(OPA1):c.2382_2383del (p.Glu794fs) rs1560041195
NM_015560.2(OPA1):c.2496+1G>T rs794727392
NM_015560.2(OPA1):c.2569C>T (p.Arg857Ter) rs794727405
NM_015560.2(OPA1):c.2651dup (p.Arg885fs) rs886043317
NM_015560.2(OPA1):c.2708_2711delTTAG rs80356530
NM_015560.2(OPA1):c.2822_2823del (p.Lys941fs) rs886043136
NM_015560.2(OPA1):c.624+2T>G rs1553872742
NM_015560.2(OPA1):c.869G>A (p.Arg290Gln) rs121908375
NM_015560.2(OPA1):c.870+1G>A rs727504059
NM_015560.2(OPA1):c.983A>G (p.Lys328Arg) rs398124303
NM_015560.2(OPA1):c.985-2A>G rs886041317
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+1492T>A rs727504058
NM_130831.3(OPA1):c.527_528del (p.Lys176fs) rs794727804
NM_130837.3(OPA1):c.804_805del (p.Lys269fs) rs863224142

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