ClinVar Miner

List of variants in gene OSGEP studied for Galloway-Mowat syndrome 3

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_017807.4(OSGEP):c.412-17T>A rs938881 0.59439
NM_017807.4(OSGEP):c.570A>G (p.Leu190=) rs938883 0.52815
NM_017807.4(OSGEP):c.558-17C>T rs938882 0.51822
NM_017807.4(OSGEP):c.530G>C (p.Gly177Ala) rs778931753 0.00005
NM_017807.4(OSGEP):c.838C>T (p.Arg280Cys) rs374322839 0.00005
NM_017807.4(OSGEP):c.740G>A (p.Arg247Gln) rs773173317 0.00003
NM_017807.4(OSGEP):c.973C>T (p.Arg325Trp) rs761839638 0.00003
NM_017807.4(OSGEP):c.974G>A (p.Arg325Gln) rs753237335 0.00003
NM_017807.4(OSGEP):c.550G>A (p.Ala184Thr) rs1217940902 0.00001
NM_017807.4(OSGEP):c.556C>T (p.Arg186Ter) rs140696201 0.00001
NM_017807.4(OSGEP):c.763C>T (p.Gln255Ter) rs200126749 0.00001
NM_017807.4(OSGEP):c.365G>T (p.Gly122Val) rs1166790792
NM_017807.4(OSGEP):c.560G>T (p.Gly187Val) rs1417690595
NM_017807.4(OSGEP):c.695C>A (p.Ser232Tyr) rs2139289899
NM_017807.4(OSGEP):c.711_712del (p.Phe238fs)
NM_017807.4(OSGEP):c.839G>A (p.Arg280His) rs144732839
NM_017807.4(OSGEP):c.839G>T (p.Arg280Leu) rs144732839
NM_017807.4(OSGEP):c.841G>A (p.Gly281Arg) rs1880982246
NM_017807.4(OSGEP):c.875G>A (p.Cys292Tyr)
NM_017807.4(OSGEP):c.892A>T (p.Met298Leu) rs1566507605

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