ClinVar Miner

List of variants reported as pathogenic for X-linked syndromic intellectual disability by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000489.6(ATRX):c.736C>T (p.Arg246Cys) rs122445105
NM_001184880.2(PCDH19):c.986_987del (p.His329fs)
NM_001356.5(DDX3X):c.1535_1536del (p.His512fs) rs796052230
NM_004187.5(KDM5C):c.1439C>T (p.Pro480Leu) rs1057518697
NM_004586.3(RPS6KA3):c.1894C>T (p.Arg632Ter) rs1085307639
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763
NM_031407.7(HUWE1):c.329G>A (p.Arg110Gln) rs1557036768

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