List of variants in gene NR5A1 reported as pathogenic by Genetic Services Laboratory, University of Chicago

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_004959.5(NR5A1):c.274C>T (p.Arg92Trp)	rs886039769
NM_004959.5(NR5A1):c.34_38delinsGACCTGGACCTGT (p.Leu12fs)	rs1554721883
NM_004959.5(NR5A1):c.958G>T (p.Glu320Ter)	rs2131279881

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