ClinVar Miner

List of variants in gene OPA1 reported as likely pathogenic by GeneDx

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Total variants: 14
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HGVS dbSNP
GRCh37/hg19 3q29(chr3:193360287-193360759)x1
NM_015560.2(OPA1):c.1037G>A (p.Arg346Gln) rs1180256773
NM_015560.2(OPA1):c.1097G>A (p.Arg366Gln) rs535885178
NM_015560.2(OPA1):c.1146A>G (p.Ile382Met) rs143319805
NM_015560.2(OPA1):c.1208T>C (p.Ile403Thr) rs863224135
NM_015560.2(OPA1):c.1301T>C (p.Leu434Pro) rs1553877946
NM_015560.2(OPA1):c.1325A>C (p.Asp442Ala) rs1064795743
NM_015560.2(OPA1):c.1384A>C (p.Thr462Pro) rs1553878117
NM_015560.2(OPA1):c.1847+1G>T rs863224134
NM_015560.2(OPA1):c.2797G>A (p.Val933Ile) rs375733283
NM_015560.2(OPA1):c.870+5G>A rs754576717
NM_015560.2(OPA1):c.871G>C (p.Val291Leu) rs1553876590
NM_015560.2(OPA1):c.880G>T (p.Val294Phe) rs863224131
NM_015560.2(OPA1):c.961A>G (p.Met321Val) rs863224132

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