ClinVar Miner

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

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
GRCh37/hg19 17q24.3(chr17:69458883-69482850)x3
GRCh37/hg19 17q24.3(chr17:69475275-69499520)x3
NM_003140.3(SRY):c.331C>T (p.Gln111Ter) rs1556370543
NM_004959.5(NR5A1):c.274C>T (p.Arg92Trp) rs886039769
NM_004959.5(NR5A1):c.275G>A (p.Arg92Gln) rs104894119
SOX9, 148-KB DUP, UPSTREAM REGULATORY REGION
SOX9, 178-KB DUP, UPSTREAM REGULATORY REGION
SOX9, 96-KB TRIPLICATION, UPSTREAM REGULATORY REGION

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