ClinVar Miner

List of variants reported as pathogenic for X-linked intellectual disability-psychosis-macroorchidism syndrome by OMIM

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
MECP2, 240-BP DEL, NT1161
NM_004992.3(MECP2):c.1180G>T (p.Glu394Ter) rs63094662
NM_004992.3(MECP2):c.410A>G (p.Glu137Gly) rs61748392
NM_004992.3(MECP2):c.419C>T (p.Ala140Val) rs28934908
NM_004992.3(MECP2):c.674C>T (p.Pro225Leu) rs61749715
NM_004992.3(MECP2):c.964C>T (p.Pro322Ser) rs61751449

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