ClinVar Miner

List of variants reported as pathogenic for X-linked syndromic intellectual disability by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001008537.3(NEXMIF):c.3409C>T (p.Gln1137Ter) rs2080101717
NM_001039591.3(USP9X):c.52C>T (p.Gln18Ter) rs2062209732
NM_001110556.2(FLNA):c.3562G>A (p.Ala1188Thr) rs28935472
NM_001184880.2(PCDH19):c.1019A>G (p.Asn340Ser) rs796052839
NM_001184880.2(PCDH19):c.1153C>G (p.Gln385Glu) rs1928405180
NM_001184880.2(PCDH19):c.1153C>T (p.Gln385Ter) rs1928405180
NM_001356.5(DDX3X):c.1535_1536del (p.His512fs) rs796052230
NM_001356.5(DDX3X):c.931C>T (p.Arg311Ter) rs1453153749
NM_001830.4(CLCN4):c.2152C>T (p.Arg718Trp) rs879255584
NM_004586.3(RPS6KA3):c.932T>G (p.Leu311Ter) rs1603422403
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763

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