List of variants reported as pathogenic for SRD5A3-congenital disorder of glycosylation by OMIM

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_024592.5(SRD5A3):c.286_288delinsTGAGTAAGGC (p.Gln96Ter)	rs587776521
NM_024592.5(SRD5A3):c.29C>A (p.Ser10Ter)	rs267607094
NM_024592.5(SRD5A3):c.320G>A (p.Trp107Ter)	rs267607093
NM_024592.5(SRD5A3):c.424C>T (p.Arg142Ter)	rs267607095
NM_024592.5(SRD5A3):c.489C>A (p.Tyr163Ter)	rs267607092

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