List of variants reported as pathogenic for 46,XX disorder of sex development by OMIM

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NC_000017.10:g.(69320000_69330000)_(69527000_69517000)dup
NC_000017.10:g.69521863_69670036dup
NM_001242908.2(RSPO1):c.-288-413_94+1957del
NM_001242908.2(RSPO1):c.108dup (p.Ser37Glufs*9)	rs2148163144
NM_004959.5(NR5A1):c.274C>T (p.Arg92Trp)	rs886039769
NM_004959.5(NR5A1):c.275G>A (p.Arg92Gln)	rs104894119
SOX9, 96-KB TRIPLICATION, UPSTREAM REGULATORY REGION

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