ClinVar Miner

List of variants in gene OPA1 studied for Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_130837.3(OPA1):c.1035+4T>C rs166850 0.88294
NM_130837.3(OPA1):c.2274T>C (p.Ala758=) rs9851685 0.50117
NM_130837.3(OPA1):c.43C>A (p.Gln15Lys) rs75414918 0.00229
NM_130837.3(OPA1):c.321G>A (p.Ser107=) rs117888848 0.00212
NM_130837.3(OPA1):c.344C>T (p.Ala115Val) rs200983556 0.00013
NM_130837.3(OPA1):c.1034G>A (p.Arg345Gln) rs121908375
NM_130837.3(OPA1):c.1118C>G (p.Ser373Cys) rs2109015193
NM_130837.3(OPA1):c.113_130del (p.Arg38_Ser43del) rs863224140
NM_130837.3(OPA1):c.1459A>G (p.Ile487Val) rs387906899
NM_130837.3(OPA1):c.1481G>T (p.Gly494Val) rs387906900
NM_130837.3(OPA1):c.1499G>A (p.Arg500His) rs80356529
NM_130837.3(OPA1):c.1511del (p.Thr504fs) rs794729196
NM_130837.3(OPA1):c.1720G>A (p.Glu574Lys) rs2109058910
NM_130837.3(OPA1):c.1728_1734del (p.Glu576fs) rs2109058985
NM_130837.3(OPA1):c.1910A>G (p.Tyr637Cys) rs121908376
NM_130837.3(OPA1):c.267G>T (p.Trp89Cys) rs1728788655
NM_130837.3(OPA1):c.2873_2876del rs80356530
NM_130837.3(OPA1):c.2894T>A (p.Val965Asp) rs387906901
NM_130837.3(OPA1):c.3013_3014del (p.Asp1005fs) rs879255513
NM_130837.3(OPA1):c.365G>A (p.Trp122Ter)
NM_130837.3(OPA1):c.3G>A (p.Met1Ile) rs1724946838
NM_130837.3(OPA1):c.556+1G>A rs1577162868
NM_130837.3(OPA1):c.610+360G>A rs1553872542
NM_130837.3(OPA1):c.970T>C (p.Ser324Pro) rs2109011385

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