ClinVar Miner

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

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Total variants: 15
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HGVS dbSNP
NM_015560.2(OPA1):c.1065+5G>A rs1057519244
NM_015560.2(OPA1):c.113_130del (p.Arg38_Ser43del) rs863224140
NM_015560.2(OPA1):c.1516+3A>G rs1553878573
NM_015560.2(OPA1):c.1654T>C (p.Phe552Leu) rs1560380226
NM_015560.2(OPA1):c.1706C>A (p.Ala569Glu) rs1553879362
NM_015560.2(OPA1):c.2354A>G (p.Gln785Arg) rs1064797302
NM_015560.2(OPA1):c.2356-8T>G rs1064797303
NM_015560.2(OPA1):c.2386G>T (p.Glu796Ter) rs1553786499
NM_015560.2(OPA1):c.2471G>A (p.Arg824Gln) rs200412464
NM_015560.2(OPA1):c.2761_2774del (p.Asp920_Gly921insTer) rs1553788026
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.700G>T (p.Glu234Ter) rs1319065221
NM_015560.2(OPA1):c.70A>G (p.Ile24Val) rs201520438

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