ClinVar Miner

List of variants studied for optic atrophy by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (52):
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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_025136.4(OPA3):c.-38A>G rs45527139 0.02241
NM_012062.5(DNM1L):c.741-19G>A rs79520527 0.00897
NM_152296.5(ATP1A3):c.2487G>A (p.Pro829=) rs45606534 0.00759
NM_001098.3(ACO2):c.220C>G (p.Leu74Val) rs141772938 0.00383
NM_152296.5(ATP1A3):c.357C>T (p.Asn119=) rs143547136 0.00108
NM_001098.3(ACO2):c.719G>C (p.Gly240Ala) rs141878785 0.00064
NM_152296.5(ATP1A3):c.192G>A (p.Arg64=) rs146053862 0.00061
NM_001098.3(ACO2):c.1038G>A (p.Lys346=) rs144269243 0.00055
NM_152296.5(ATP1A3):c.1503C>T (p.Pro501=) rs143904999 0.00027
NM_152296.5(ATP1A3):c.-148T>G rs769525784 0.00026
NM_012062.5(DNM1L):c.305C>T (p.Thr102Met) rs201929226 0.00024
NM_130837.3(OPA1):c.653C>T (p.Ser218Phe) rs200243596 0.00022
NM_152296.5(ATP1A3):c.2419-7C>T rs187436315 0.00016
NM_001098.3(ACO2):c.2051G>A (p.Arg684Gln) rs200345386 0.00011
NM_001098.3(ACO2):c.941-19C>T rs375652573 0.00007
NM_001098.3(ACO2):c.2050C>T (p.Arg684Trp) rs768950391 0.00006
NM_152296.5(ATP1A3):c.-64A>G rs373531937 0.00006
NM_152296.5(ATP1A3):c.1368C>T (p.Ser456=) rs782325595 0.00006
NM_152296.5(ATP1A3):c.2418+18C>T rs369674143 0.00003
NM_152296.5(ATP1A3):c.2819+12G>A rs782653272 0.00002
NM_012062.5(DNM1L):c.1596+2T>A rs769684495 0.00001
NM_025136.4(OPA3):c.123C>G (p.Ile41Met) rs763083098 0.00001
NM_130837.3(OPA1):c.2429G>A (p.Arg810His) rs762258708 0.00001
NM_130837.3(OPA1):c.2617C>T (p.Arg873Trp) rs143252541 0.00001
NM_152296.5(ATP1A3):c.1218C>T (p.His406=) rs1238469762 0.00001
NM_152296.5(ATP1A3):c.2968G>A (p.Val990Ile) rs781786336 0.00001
NM_152296.5(ATP1A3):c.384C>G (p.Ala128=) rs782662538 0.00001
NC_000019.10:g.45529185C>T rs566450630
NC_012920.1(MT-CYB):m.15437G>A rs878853058
NC_012920.1(MT-ND4):m.11360A>G rs878928689
NC_012920.1(MT-ND4):m.11778G>A rs199476112
NM_001017989.3(OPA3):c.445del (p.Leu149fs) rs780299639
NM_001017989.3(OPA3):c.535delinsAA (p.Glu179fs) rs1555730141
NM_001098.3(ACO2):c.1387G>T (p.Gly463Trp) rs2006715
NM_006796.3(AFG3L2):c.1996A>G (p.Met666Val) rs151344514
NM_006796.3(AFG3L2):c.2314C>A (p.Leu772Ile) rs117182113
NM_012062.5(DNM1L):c.1885-15del rs863223951
NM_025136.4(OPA3):c.143-1G>C rs80356523
NM_032730.5(RTN4IP1):c.104_117delinsGAAGGATT (p.Thr35_Arg39delinsArgArgIle) rs2114690778
NM_130837.3(OPA1):c.2873_2876del rs80356530
NM_152296.5(ATP1A3):c.-130GACG[3] rs879996553
NM_152296.5(ATP1A3):c.1839G>C (p.Thr613=) rs376852509
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)
NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys) rs387907281
NM_152296.5(ATP1A3):c.2767G>A (p.Asp923Asn) rs267606670
NM_152296.5(ATP1A3):c.2839G>A (p.Gly947Arg) rs398122887

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