List of variants in gene SRD5A3 reported as pathogenic for SRD5A3-congenital disorder of glycosylation

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_024592.5(SRD5A3):c.57G>A (p.Trp19Ter)	rs398124401	0.00001
NC_000004.11:g.(?_56225493)_(56225675_?)del
NM_024592.5(SRD5A3):c.279C>A (p.Cys93Ter)	rs1482361634
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
NM_024592.5(SRD5A3):c.50_60del (p.Ala17fs)
NM_024592.5(SRD5A3):c.697+1G>C	rs1719958144

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