ClinVar Miner

List of variants reported as likely pathogenic for Autosomal dominant optic atrophy classic form

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_130837.3(OPA1):c.1262G>A (p.Arg421Gln) rs535885178 0.00001
NM_130837.3(OPA1):c.301C>T (p.Arg101Cys) rs371943668 0.00001
GRCh37/hg19 3q29(chr3:193343827-194599635)x1
NM_130837.3(OPA1):c.1035+5G>A rs754576717
NM_130837.3(OPA1):c.1051G>C (p.Asp351His) rs1577228080
NM_130837.3(OPA1):c.114_115insG (p.Ser39fs)
NM_130837.3(OPA1):c.1230+5G>A rs1057519244
NM_130837.3(OPA1):c.1241_1245del (p.Leu414fs)
NM_130837.3(OPA1):c.1348G>A (p.Val450Met)
NM_130837.3(OPA1):c.1454A>T (p.Asn485Ile) rs1577243012
NM_130837.3(OPA1):c.1459A>G (p.Ile487Val) rs387906899
NM_130837.3(OPA1):c.164dup (p.Leu55fs) rs1728771454
NM_130837.3(OPA1):c.1852C>T (p.Gln618Ter)
NM_130837.3(OPA1):c.1890_1891del (p.Glu630fs) rs1711513680
NM_130837.3(OPA1):c.1935+1G>C rs1711518217
NM_130837.3(OPA1):c.2142del (p.Gln714fs) rs2109139435
NM_130837.3(OPA1):c.2296C>T (p.Arg766Ter) rs863224906
NM_130837.3(OPA1):c.2661+1G>C
NM_130837.3(OPA1):c.2778+1G>A
NM_130837.3(OPA1):c.2779-9A>G rs1716524583
NM_130837.3(OPA1):c.2806del (p.Trp936fs)
NM_130837.3(OPA1):c.2873_2876del rs80356530
NM_130837.3(OPA1):c.2983+6T>A rs1577335678
NM_130837.3(OPA1):c.2987A>C (p.Lys996Thr) rs1721758840
NM_130837.3(OPA1):c.880G>T (p.Glu294Ter)
NM_130837.3(OPA1):c.885C>G (p.Asn295Lys) rs750185470

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