List of variants in gene NR5A1 studied for 46,XX disorder of sex development

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_004959.5(NR5A1):c.205C>T (p.Arg69Cys)	rs2131289737
NM_004959.5(NR5A1):c.247G>A (p.Val83Met)
NM_004959.5(NR5A1):c.274C>T (p.Arg92Trp)	rs886039769
NM_004959.5(NR5A1):c.275G>A (p.Arg92Gln)	rs104894119
NM_004959.5(NR5A1):c.637_640dup (p.Pro214fs)	rs1832447335
NM_004959.5(NR5A1):c.88T>C (p.Cys30Arg)	rs1564153753

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