ClinVar Miner

List of variants studied for 46,XX disorder of sex development by OMIM

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
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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