ClinVar Miner

List of variants reported as pathogenic for X-linked syndromic intellectual disability by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 Xq28(chrX:153217915-153618382)x2
GRCh37/hg19 Xq28(chrX:153247464-153522710)x3
NM_000489.6(ATRX):c.1727C>G (p.Ser576Ter) rs2071372283
NM_000489.6(ATRX):c.536A>G (p.Asn179Ser) rs398123425
NM_000489.6(ATRX):c.7205del (p.Ile2402fs) rs1569513017
NM_001008537.3(NEXMIF):c.1131dup (p.Lys378Ter)
NM_001008537.3(NEXMIF):c.1441C>T (p.Arg481Ter) rs886041701
NM_001008537.3(NEXMIF):c.1763G>A (p.Trp588Ter) rs2147440717
NM_001008537.3(NEXMIF):c.3579del (p.Asn1195fs) rs2147439375
NM_001015877.2(PHF6):c.585+1G>A rs2077460481
NM_001079872.2(CUL4B):c.953_957del (p.Ile318fs) rs1085307760
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001184880.2(PCDH19):c.1183C>T (p.Arg395Ter) rs769967221
NM_001184880.2(PCDH19):c.853_854dup (p.Glu287fs) rs1928424117
NM_001356.5(DDX3X):c.1443dup (p.Glu482fs) rs2147358635
NM_001356.5(DDX3X):c.1693C>T (p.Gln565Ter) rs2147360033
NM_001356.5(DDX3X):c.207T>G (p.Tyr69Ter) rs2147348697
NM_001367721.1(CASK):c.82C>T (p.Arg28Ter) rs587783370
NM_001830.4(CLCN4):c.1630G>A (p.Gly544Arg) rs587777161
NM_003491.4(NAA10):c.247C>T (p.Arg83Cys)
NM_003491.4(NAA10):c.346C>T (p.Arg116Trp)
NM_007325.5(GRIA3):c.1957G>T (p.Ala653Ser)
NM_014927.5(CNKSR2):c.1988_1989del (p.Arg663fs) rs2092480172
NM_014927.5(CNKSR2):c.2336C>G (p.Ser779Ter) rs2147283343
NM_014927.5(CNKSR2):c.548_551del (p.Lys183fs) rs2147143428
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763

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