ClinVar Miner

List of variants in gene LOC107372315, OSGEP studied for Galloway-Mowat syndrome 3

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_017807.4(OSGEP):c.236-32T>C rs2275006 0.59820
NM_017807.4(OSGEP):c.328T>C (p.Cys110Arg) rs140076803 0.00036
NM_017807.4(OSGEP):c.319G>A (p.Val107Met) rs140583554 0.00003
NM_017807.4(OSGEP):c.157A>T (p.Ile53Phe) rs780944919 0.00001
NM_017807.4(OSGEP):c.332T>C (p.Ile111Thr) rs1443735811 0.00001
NM_017807.4(OSGEP):c.118T>C (p.Phe40Leu)
NM_017807.4(OSGEP):c.294A>G (p.Gln98=) rs2275007
NM_017807.4(OSGEP):c.317G>T (p.Gly106Val) rs1881115384
NM_017807.4(OSGEP):c.40A>T (p.Ile14Phe) rs1555331969
NM_017807.4(OSGEP):c.81C>G (p.Asn27Lys) rs1881216647

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