ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_015560.2(OPA1):c.1065+5G>A rs1057519244
NM_015560.2(OPA1):c.1654T>C (p.Phe552Leu) rs1560380226
NM_015560.2(OPA1):c.1712G>A (p.Arg571His) rs140606054
NM_015560.2(OPA1):c.2354A>G (p.Gln785Arg) rs1064797302
NM_015560.2(OPA1):c.2386G>T (p.Glu796Ter) rs1553786499
NM_015560.2(OPA1):c.700G>T (p.Glu234Ter) rs1319065221

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