ClinVar Miner

List of variants reported as pathogenic for X-linked disease by Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001039591.3(USP9X):c.6004C>T (p.Arg2002Ter) rs2063213305
NM_001039591.3(USP9X):c.6458dup (p.Ser2153fs) rs2063238551
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) rs61752992
NM_001356.5(DDX3X):c.381G>A (p.Trp127Ter)
NM_002547.2(OPHN1):c.313_326del
NM_004187.5(KDM5C):c.1439C>T (p.Pro480Leu) rs1057518697
NM_015107.3(PHF8):c.1880del (p.Lys627fs) rs2065590491

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