ClinVar Miner

List of variants reported as pathogenic for X-linked syndromic intellectual disability by Center of Genomic medicine, Geneva,University Hospital of Geneva

Included ClinVar conditions (168):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_000284.4(PDHA1):c.1132C>T (p.Arg378Cys) rs863224147
NM_000489.5(ATRX):c.6122G>A (p.Ser2041Asn) rs1060499658
NM_000533.5(PLP1):c.175G>T (p.Glu59Ter) rs1060499653
NM_001008537.3(NEXMIF):c.3470C>A (p.Ser1157Ter) rs1060499652
NM_001272071.2(AP1S2):c.1-3C>A rs1060499672
NM_001278116.2(L1CAM):c.2380C>T (p.Gln794Ter) rs875989884
NM_001323289.2(CDKL5):c.2359_2363del (p.Lys787fs) rs1555954078
NM_001323289.2(CDKL5):c.747dup (p.Pro250fs) rs875989880
NM_003588.3(CUL4B):c.1458_1459del (p.Val487fs) rs1556206910
NM_003688.3(CASK):c.1837C>T (p.Arg613Ter) rs779508996
NM_004187.4(KDM5C):c.767_768CT[1] (p.Leu257fs) rs1060499661
NM_004992.3(MECP2):c.473C>T (p.Thr158Met) rs28934906

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