ClinVar Miner

List of variants in gene OPA1 reported as uncertain significance by CeGaT Praxis fuer Humangenetik Tuebingen

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Gene type:
ClinVar version:
Total variants: 14
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NM_001354663.2(OPA1):c.-260_-243del rs863224140
NM_015560.2(OPA1):c.1516+3A>G rs1553878573
NM_015560.2(OPA1):c.1560A>C (p.Glu520Asp) rs1424763009
NM_015560.2(OPA1):c.1706C>A (p.Ala569Glu) rs1553879362
NM_015560.2(OPA1):c.2256G>T (p.Leu752=) rs148047706
NM_015560.2(OPA1):c.2356-8T>G rs1064797303
NM_015560.2(OPA1):c.2427T>C (p.Leu809=) rs145999595
NM_015560.2(OPA1):c.2471G>A (p.Arg824Gln) rs200412464
NM_015560.2(OPA1):c.2714G>A (p.Arg905Gln) rs763280368
NM_015560.2(OPA1):c.326T>C (p.Val109Ala) rs77173739
NM_015560.2(OPA1):c.344C>T (p.Ala115Val) rs200983556
NM_015560.2(OPA1):c.429T>C (p.Ile143=) rs761336580
NM_015560.2(OPA1):c.557-8_557-3del rs1553872701
NM_015560.2(OPA1):c.70A>G (p.Ile24Val) rs201520438

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