ClinVar Miner

List of variants reported as uncertain significance for hereditary optic atrophy by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (34):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_001098.3(ACO2):c.220C>G (p.Leu74Val) rs141772938 0.00383
NM_001098.3(ACO2):c.719G>C (p.Gly240Ala) rs141878785 0.00064
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_001098.3(ACO2):c.2051G>A (p.Arg684Gln) rs200345386 0.00011
NM_001098.3(ACO2):c.2050C>T (p.Arg684Trp) rs768950391 0.00006
NM_152296.5(ATP1A3):c.-64A>G rs373531937 0.00006
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.2968G>A (p.Val990Ile) rs781786336 0.00001
NC_012920.1(MT-CYB):m.15437G>A rs878853058
NC_012920.1(MT-ND4):m.11360A>G rs878928689
NM_001017989.3(OPA3):c.445del (p.Leu149fs) rs780299639
NM_001017989.3(OPA3):c.535delinsAA (p.Glu179fs) rs1555730141
NM_006796.3(AFG3L2):c.2312C>T (p.Ser771Leu)
NM_006796.3(AFG3L2):c.2314C>A (p.Leu772Ile) rs117182113
NM_032730.5(RTN4IP1):c.104_117delinsGAAGGATT (p.Thr35_Arg39delinsArgArgIle) rs2114690778
NM_130837.3(OPA1):c.1049G>A (p.Gly350Glu)
NM_152296.5(ATP1A3):c.-130GACG[3] rs879996553
NM_152296.5(ATP1A3):c.1028G>A (p.Arg343Gln)
NM_152296.5(ATP1A3):c.3019G>A (p.Val1007Met)

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