ClinVar Miner

List of variants in gene OSGEP studied for Inborn genetic diseases

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_017807.4(OSGEP):c.838C>T (p.Arg280Cys) rs374322839 0.00005
NM_017807.4(OSGEP):c.973C>T (p.Arg325Trp) rs761839638 0.00003
NM_017807.4(OSGEP):c.412G>A (p.Val138Met)
NM_017807.4(OSGEP):c.450_497dup (p.Arg166_Val167insGluThrIleAspIleAlaValGlyAsnCysLeuAspArgPheAlaArg)
NM_017807.4(OSGEP):c.487C>T (p.Arg163Cys)
NM_017807.4(OSGEP):c.508A>T (p.Ile170Phe)
NM_017807.4(OSGEP):c.524G>A (p.Ser175Asn) rs765090033
NM_017807.4(OSGEP):c.536A>G (p.Asn179Ser)
NM_017807.4(OSGEP):c.589G>A (p.Val197Ile)
NM_017807.4(OSGEP):c.604G>A (p.Val202Ile)
NM_017807.4(OSGEP):c.745A>G (p.Met249Val)
NM_017807.4(OSGEP):c.841G>A (p.Gly281Arg) rs1880982246
NM_017807.4(OSGEP):c.850C>T (p.Leu284Phe) rs1183576123
NM_017807.4(OSGEP):c.925G>A (p.Ala309Thr)
NM_017807.4(OSGEP):c.956G>A (p.Gly319Glu)

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