ClinVar Miner

List of variants reported as likely pathogenic for Lowe syndrome

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_000276.4(OCRL):c.1009C>T (p.Arg337Cys) rs137853831 0.00001
NC_000023.10:g.(?_128699729)_(128701360_?)del
NM_000276.4(OCRL):c.1050del (p.Met352fs)
NM_000276.4(OCRL):c.1057-2_1057-1del
NM_000276.4(OCRL):c.1244+1338_1366del
NM_000276.4(OCRL):c.1466+1G>A rs1936229983
NM_000276.4(OCRL):c.1478G>A (p.Arg493Gln)
NM_000276.4(OCRL):c.1571A>G (p.His524Arg) rs137853852
NM_000276.4(OCRL):c.1713+1G>A
NM_000276.4(OCRL):c.1714-2A>G
NM_000276.4(OCRL):c.1879+2T>G
NM_000276.4(OCRL):c.2051_2055delinsCTA (p.Leu684fs)
NM_000276.4(OCRL):c.2083C>T (p.Arg695Ter) rs2124419087
NM_000276.4(OCRL):c.2256+1G>T rs2124428298
NM_000276.4(OCRL):c.238_238+1del
NM_000276.4(OCRL):c.2470-1G>A rs1602820970
NM_000276.4(OCRL):c.2581G>C (p.Ala861Pro) rs2124430527
NM_000276.4(OCRL):c.349+2T>G
NM_000276.4(OCRL):c.560+1G>C rs1569458883
NM_000276.4(OCRL):c.577_578del (p.Glu193fs)
NM_000276.4(OCRL):c.722G>C (p.Arg241Thr)
NM_000276.4(OCRL):c.741G>A (p.Trp247Ter) rs1936131926
NM_000276.4(OCRL):c.824G>C (p.Gly275Ala) rs1602783564
NM_000276.4(OCRL):c.850G>A (p.Glu284Lys) rs2124404743
NM_000276.4(OCRL):c.985A>T (p.Arg329Ter)

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