ClinVar Miner

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

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Gene type:
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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met) rs143319805 0.00056
NM_130837.3(OPA1):c.1016C>T (p.Thr339Met) rs141326740 0.00004
NM_130837.3(OPA1):c.706C>A (p.Gln236Lys) rs779375399 0.00002
NM_130837.3(OPA1):c.326T>C (p.Val109Ala) rs77173739 0.00001
NM_130837.3(OPA1):c.1036-6G>A rs1553876585
NM_130837.3(OPA1):c.1037T>A (p.Val346Asp) rs1553876592
NM_130837.3(OPA1):c.1136G>A (p.Arg379His) rs1475478496
NM_130837.3(OPA1):c.1431C>G (p.Ser477Arg) rs1553877941
NM_130837.3(OPA1):c.1466T>C (p.Leu489Pro) rs1553877946
NM_130837.3(OPA1):c.1480G>A (p.Gly494Arg) rs2109046811
NM_130837.3(OPA1):c.1577T>C (p.Leu526Pro) rs1553878150
NM_130837.3(OPA1):c.1666G>A (p.Val556Ile) rs1553878564
NM_130837.3(OPA1):c.1681+3A>G rs1553878573
NM_130837.3(OPA1):c.1681+5G>A rs1553878576
NM_130837.3(OPA1):c.1722AGA[1] (p.Glu576del) rs794727173
NM_130837.3(OPA1):c.2126A>G (p.Asp709Gly) rs2109139343
NM_130837.3(OPA1):c.2143T>C (p.Trp715Arg) rs1553881180
NM_130837.3(OPA1):c.2179-7A>G rs2109162943
NM_130837.3(OPA1):c.2218A>C (p.Met740Leu)
NM_130837.3(OPA1):c.2987_2992del (p.Lys996_Val997del) rs2109460418
NM_130837.3(OPA1):c.556+3A>G

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