ClinVar Miner

List of variants reported as likely pathogenic for X-linked syndromic intellectual disability by Laboratoire de Cytogenetique,Hospices Civils de Lyon

Included ClinVar conditions (168):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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NM_001039591.3(USP9X):c.671T>C (p.Leu224Pro) rs1569165417
NM_001323289.2(CDKL5):c.394G>T (p.Val132Phe) rs1569213917
NM_003688.3(CASK):c.2129A>G (p.Asp710Gly) rs137852818
NM_004187.4(KDM5C):c.100del (p.Ile34fs) rs1569285361
NM_004187.4(KDM5C):c.593G>A (p.Arg198Gln) rs1569279367
NM_004586.3(RPS6KA3):c.649G>A (p.Glu217Lys) rs1569216119
NM_005249.5(FOXG1):c.763T>A (p.Trp255Arg) rs1566445533
NM_016032.4(ZDHHC9):c.268G>A (p.Asp90Asn) rs1569321518

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