ClinVar Miner

List of variants reported as likely pathogenic for X-linked disease by Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children

Included ClinVar conditions (313):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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NM_001110792.2(MECP2):c.1130_1174del (p.Glu377_Pro391del) rs1064792899
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907
NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys) rs61748390
NM_001110792.2(MECP2):c.504C>A (p.Asp168Glu) rs61748408
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.941C>T (p.Pro314Leu) rs61749723
NM_001110792.2(MECP2):c.953G>A (p.Arg318His) rs61751443

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