ClinVar Miner

List of variants reported as pathogenic by Daan van Aalten Lab, University of Dundee

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_181672.3(OGT):c.1016A>G (p.Glu339Gly) rs1602147880
NM_181672.3(OGT):c.1942A>T (p.Asn648Tyr) rs1602152230
NM_181672.3(OGT):c.762G>C (p.Leu254Phe) rs1131692155
NM_181672.3(OGT):c.775G>A (p.Ala259Thr) rs797044898
NM_181672.3(OGT):c.851G>C (p.Arg284Pro) rs1114167891

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