ClinVar Miner

List of variants reported as pathogenic for 46,XX sex reversal 4

Included ClinVar conditions (1):

46,XX sex reversal 4

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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.275G>A (p.Arg92Gln)	rs104894119
NM_004959.5(NR5A1):c.637_640dup (p.Pro214fs)	rs1832447335

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