ClinVar Miner

List of variants in gene OPA1 reported as uncertain significance by Athena Diagnostics Inc

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Gene type:
ClinVar version:
Total variants: 14
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NM_015560.2(OPA1):c.1266C>G (p.Ser422Arg) rs1553877941
NM_015560.2(OPA1):c.1412T>C (p.Leu471Pro) rs1553878150
NM_015560.2(OPA1):c.1501G>A (p.Val501Ile) rs1553878564
NM_015560.2(OPA1):c.1516+3A>G rs1553878573
NM_015560.2(OPA1):c.1516+5G>A rs1553878576
NM_015560.2(OPA1):c.1669_1671del (p.Arg557del) rs1560380246
NM_015560.2(OPA1):c.1978T>C (p.Trp660Arg) rs1553881180
NM_015560.2(OPA1):c.326T>C (p.Val109Ala) rs77173739
NM_015560.2(OPA1):c.851C>T (p.Thr284Met) rs141326740
NM_015560.2(OPA1):c.871-6G>A rs1553876585
NM_015560.2(OPA1):c.872T>A (p.Val291Asp) rs1553876592
NM_130837.2(OPA1):c.706C>A (p.Gln236Lys) rs779375399
NM_130837.3(OPA1):c.1136G>A (p.Arg379His)
NM_130837.3(OPA1):c.1722AGA[1] (p.Glu576del) rs794727173

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