ClinVar Miner

List of variants in gene OPA1 reported by Preventiongenetics, part of Exact Sciences

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Gene type:
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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_130837.3(OPA1):c.1035+4T>C rs166850 0.88294
NM_130837.3(OPA1):c.473G>A (p.Ser158Asn) rs7624750 0.50224
NM_130837.3(OPA1):c.2274T>C (p.Ala758=) rs9851685 0.50117
NM_130837.3(OPA1):c.1935+16T>G rs9831772 0.07649
NM_130837.3(OPA1):c.2778+11C>G rs111688935 0.03759
NM_130837.3(OPA1):c.629C>T (p.Ala210Val) rs34307082 0.02411
NM_130837.3(OPA1):c.420G>T (p.Val140=) rs35801538 0.00577
NM_130837.3(OPA1):c.2880A>G (p.Arg960=) rs144898877 0.00109
NM_130837.3(OPA1):c.2441-4dup rs761286590 0.00019
NM_130837.3(OPA1):c.1877G>A (p.Arg626His) rs140606054 0.00006
NM_130837.3(OPA1):c.2531A>G (p.Asn844Ser) rs200428940 0.00004
NM_130837.3(OPA1):c.380C>T (p.Pro127Leu) rs772551106 0.00001
NM_130837.3(OPA1):c.1285G>C (p.Gly429Arg)
NM_130837.3(OPA1):c.1886T>C (p.Leu629Pro) rs1711513392
NM_130837.3(OPA1):c.1985G>T (p.Ser662Ile)
NM_130837.3(OPA1):c.219del (p.Lys74fs)
NM_130837.3(OPA1):c.2253_2254del (p.Ile751_Phe752insTer)
NM_130837.3(OPA1):c.2287del (p.Ser763fs) rs1219753329
NM_130837.3(OPA1):c.2735G>T (p.Arg912Leu)
NM_130837.3(OPA1):c.2779-9A>G rs1716524583
NM_130837.3(OPA1):c.2873_2876del rs80356530
NM_130837.3(OPA1):c.336del (p.Tyr113fs)
NM_130837.3(OPA1):c.469C>T (p.Pro157Ser)
NM_130837.3(OPA1):c.507dup (p.Asp170Ter)
NM_130837.3(OPA1):c.611-19T>C rs3772393
NM_130837.3(OPA1):c.872T>G (p.Leu291Ter)

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