ClinVar Miner

List of variants reported as likely pathogenic for 46,XY disorder of sex development of gynecological interest by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP
NM_000102.4(CYP17A1):c.1435_1438dup (p.Pro480fs) rs556794126
NM_000198.4(HSD3B2):c.1064G>A (p.Trp355Ter) rs767128094

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