ClinVar Miner

List of variants reported as pathogenic for X-linked disease by Medical Molecular Genetics Department, National Research Center

Included ClinVar conditions (313):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) rs267608327
NM_001110792.2(MECP2):c.1270_1373del (p.Val424fs) rs1557135039
NM_001110792.2(MECP2):c.648_649AG[1] (p.Glu217fs) rs1603309190
NM_001110792.2(MECP2):c.858_859TG[1] (p.Val287fs) rs1557136374
NM_001110792.2(MECP2):c.917_1208del (p.Arg306fs) rs1603307859
NM_001110792.2(MECP2):c.95del (p.Gly32fs) rs1603310910

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