List of variants reported as pathogenic for 46,XY sex reversal 3 by OMIM

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_004959.5(NR5A1):c.104_105delinsAA (p.Gly35Glu)	rs121918654
NM_004959.5(NR5A1):c.1058_1065del (p.Glu353fs)
NM_004959.5(NR5A1):c.1310T>A (p.Leu437Gln)	rs104894120
NM_004959.5(NR5A1):c.18del (p.Asp6fs)	rs606231205
NM_004959.5(NR5A1):c.234G>A (p.Met78Ile)	rs104894125
NM_004959.5(NR5A1):c.271G>A (p.Gly91Ser)	rs104894126
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.390del (p.Pro131fs)	rs606231207
NM_004959.5(NR5A1):c.3G>A (p.Met1Ile)	rs121918656
NM_004959.5(NR5A1):c.43G>A (p.Val15Met)	rs104894124
NM_004959.5(NR5A1):c.48C>A (p.Cys16Ter)	rs104894123
NM_004959.5(NR5A1):c.666del (p.Asn222fs)	rs606231206
NM_004959.5(NR5A1):c.877G>A (p.Asp293Asn)	rs121918655

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