ClinVar Miner

List of variants in gene OPA1 reported by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

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Gene type:
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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_130837.3(OPA1):c.1034G>A (p.Arg345Gln) rs121908375
NM_130837.3(OPA1):c.112C>T (p.Arg38Ter) rs761460379
NM_130837.3(OPA1):c.1352T>G (p.Leu451Arg) rs727504060
NM_130837.3(OPA1):c.1359del (p.Leu454fs) rs2109043623
NM_130837.3(OPA1):c.1377+1G>T rs2109043749
NM_130837.3(OPA1):c.1499G>A (p.Arg500His) rs80356529
NM_130837.3(OPA1):c.1681+1G>T rs886041318
NM_130837.3(OPA1):c.1734dup (p.Gln579fs) rs1560377736
NM_130837.3(OPA1):c.2362C>T (p.Arg788Ter) rs1553784985
NM_130837.3(OPA1):c.2512dup (p.Gln838fs) rs1714725151
NM_130837.3(OPA1):c.2686del (p.Tyr896fs) rs2109253558
NM_130837.3(OPA1):c.2806del (p.Trp936fs)
NM_130837.3(OPA1):c.2853dup (p.Gln952fs)
NM_130837.3(OPA1):c.2873_2876del rs80356530
NM_130837.3(OPA1):c.2962_2966del (p.Val988fs) rs1716781226
NM_130837.3(OPA1):c.2990_2993del (p.Val997fs) rs879255560
NM_130837.3(OPA1):c.365G>A (p.Trp122Ter)
NM_130837.3(OPA1):c.460A>T (p.Lys154Ter)
NM_130837.3(OPA1):c.800_801del (p.Lys267fs) rs794727804
NM_130837.3(OPA1):c.868C>T (p.Arg290Ter) rs761743852

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