ClinVar Miner

List of variants reported as pathogenic for 46,XY sex reversal 3 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_004959.5(NR5A1):c.164del (p.Cys55fs)
NM_004959.5(NR5A1):c.244+1G>T	rs2131289685
NM_004959.5(NR5A1):c.259C>T (p.Arg87Cys)	rs866712684
NM_004959.5(NR5A1):c.983G>T (p.Gly328Val)	rs2131279852

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