ClinVar Miner

List of variants reported as pathogenic for Lowe syndrome

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Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_000276.4(OCRL):c.1498C>T (p.Arg500Ter) rs398123287 0.00001
NC_000023.10:g.(?_128674417)_(128674820_?)del
NC_000023.10:g.(?_128674417)_(128696783_?)del
NC_000023.10:g.(?_128674417)_(128724247_?)del
NC_000023.10:g.(?_128720959)_(128724247_?)del
NC_000023.11:g.(129551601)_129559858del
NC_000023.11:g.(?_126549383)_(129592556_?)del
NC_000023.11:g.129558634del
NC_000023.11:g.129565773del rs2124409486
NM_000276.3(OCRL):c.-165-?_*2286+?del
NM_000276.3(OCRL):c.-165-?_199+?del
NM_000276.3(OCRL):c.-165-?_238+?del
NM_000276.4(OCRL):c.1000C>T (p.Arg334Ter) rs1556346316
NM_000276.4(OCRL):c.1024G>T (p.Glu342Ter)
NM_000276.4(OCRL):c.1210C>T (p.Gln404Ter)
NM_000276.4(OCRL):c.1222C>T (p.Gln408Ter)
NM_000276.4(OCRL):c.1244+1G>A rs1936163310
NM_000276.4(OCRL):c.1442_1443del (p.Asp480_Ser481insTer) rs1602791255
NM_000276.4(OCRL):c.1492T>C (p.Cys498Arg)
NM_000276.4(OCRL):c.1499G>A (p.Arg500Gln) rs137853260
NM_000276.4(OCRL):c.1567G>A (p.Asp523Asn) rs2124412861
NM_000276.4(OCRL):c.1572C>G (p.His524Gln) rs137853261
NM_000276.4(OCRL):c.1576C>T (p.Pro526Ser) rs886039518
NM_000276.4(OCRL):c.1577C>T (p.Pro526Leu) rs137853858
NM_000276.4(OCRL):c.1602+1G>T rs2124412937
NM_000276.4(OCRL):c.1621C>T (p.Arg541Ter) rs1182741031
NM_000276.4(OCRL):c.1696G>T (p.Glu566Ter)
NM_000276.4(OCRL):c.1712del (p.Glu571fs)
NM_000276.4(OCRL):c.1714-1G>A rs794727182
NM_000276.4(OCRL):c.1753_1755del (p.Glu585del) rs1936362098
NM_000276.4(OCRL):c.1822dup (p.Ser608fs)
NM_000276.4(OCRL):c.1907T>A (p.Val636Glu) rs1602802472
NM_000276.4(OCRL):c.1925_1926del (p.Ser642fs) rs2124418946
NM_000276.4(OCRL):c.1979A>C (p.His660Pro) rs1602802640
NM_000276.4(OCRL):c.1987C>T (p.Arg663Ter) rs2124419015
NM_000276.4(OCRL):c.2083C>T (p.Arg695Ter) rs2124419087
NM_000276.4(OCRL):c.2257-2A>T rs2124429175
NM_000276.4(OCRL):c.2299C>T (p.Gln767Ter) rs794727333
NM_000276.4(OCRL):c.2309_2312del (p.Asp770fs)
NM_000276.4(OCRL):c.2313_2316del (p.Cys771fs)
NM_000276.4(OCRL):c.2360_2361del (p.Val787fs) rs886039519
NM_000276.4(OCRL):c.2389G>C (p.Ala797Pro) rs935956958
NM_000276.4(OCRL):c.239-4023A>G rs1057515577
NM_000276.4(OCRL):c.2428C>T (p.Arg810Ter) rs1569463775
NM_000276.4(OCRL):c.2464C>T (p.Arg822Ter) rs1602819835
NM_000276.4(OCRL):c.2469+1G>A rs1936553500
NM_000276.4(OCRL):c.2470_2581del (p.Val824Leufs*9) rs2124430398
NM_000276.4(OCRL):c.2479C>T (p.Gln827Ter)
NM_000276.4(OCRL):c.2530C>T (p.Arg844Ter) rs387906484
NM_000276.4(OCRL):c.2581G>A (p.Ala861Thr)
NM_000276.4(OCRL):c.610_1244+348del
NM_000276.4(OCRL):c.643C>T (p.Gln215Ter) rs1936103770
NM_000276.4(OCRL):c.659_662del (p.Glu220fs) rs2124402634
NM_000276.4(OCRL):c.663del (p.Leu222fs) rs2124402639
NM_000276.4(OCRL):c.676_677del (p.Ile226fs) rs1602782195
NM_000276.4(OCRL):c.723-1G>A rs2124404113
NM_000276.4(OCRL):c.739del (p.Trp247fs) rs2124404136
NM_000276.4(OCRL):c.820del (p.Ile274fs) rs2124404250
NM_000276.4(OCRL):c.860dup (p.Tyr288fs) rs1556345889
NM_000276.4(OCRL):c.904G>T (p.Glu302Ter) rs2124404819
NM_000276.4(OCRL):c.940-11G>A rs776743373
NM_000276.4(OCRL):c.943C>T (p.Gln315Ter)
NM_000276.4(OCRL):c.953G>A (p.Arg318His) rs2124405779
OCRL:exon 6-12 del
Single allele

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