List of variants in gene NR5A1 reported as likely pathogenic for 46,XY complete gonadal dysgenesis

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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: 15

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HGVS	dbSNP	gnomAD frequency
NM_004959.5(NR5A1):c.250C>T (p.Arg84Cys)	rs1832458239	0.00001
NC_000009.12:g.(?_124482420)_(124482928_?)del
NM_004959.5(NR5A1):c.1073T>C (p.Leu358Pro)	rs2131277648
NM_004959.5(NR5A1):c.1090G>T (p.Asp364Tyr)	rs2131277629
NM_004959.5(NR5A1):c.140A>G (p.Tyr47Cys)	rs2131289790
NM_004959.5(NR5A1):c.15C>A (p.Tyr5Ter)
NM_004959.5(NR5A1):c.251G>A (p.Arg84His)	rs375469069
NM_004959.5(NR5A1):c.274C>T (p.Arg92Trp)	rs886039769
NM_004959.5(NR5A1):c.44T>C (p.Val15Ala)	rs2131290009
NM_004959.5(NR5A1):c.455_536del (p.Leu152fs)	rs1588621944
NM_004959.5(NR5A1):c.61T>G (p.Ser21Ala)
NM_004959.5(NR5A1):c.937C>T (p.Arg313Cys)	rs1057517779
NM_004959.5(NR5A1):c.938G>T (p.Arg313Leu)	rs1554721235
NM_004959.5(NR5A1):c.97T>C (p.Cys33Arg)	rs1832496590
NM_004959.5(NR5A1):c.990G>A (p.Glu330=)	rs1588618614

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