ClinVar Miner

List of variants reported as pathogenic for X-linked syndromic intellectual disability by Undiagnosed Diseases Network,NIH

Included ClinVar conditions (212):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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NM_000052.7(ATP7A):c.1996G>C (p.Gly666Arg) rs797045344
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) rs267608327
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907
NM_001110792.2(MECP2):c.737_1311del (p.Ala246fs) rs1569548274
NM_001323289.2(CDKL5):c.2842C>T (p.Arg948Ter) rs1555955296
NM_001353921.2(ARHGEF9):c.1306del (p.Glu436fs) rs1602253296
NM_005249.5(FOXG1):c.460dup (p.Glu154fs) rs398124204
NM_005249.5(FOXG1):c.624C>A (p.Tyr208Ter) rs267606826
NM_031407.7(HUWE1):c.329G>A (p.Arg110Gln) rs1557036768
NR_023343.1(RNU4ATAC):n.13C>T rs559979281
Single allele

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