ClinVar Miner

List of variants reported as uncertain significance for X-linked syndromic intellectual disability by Center for Human Genetics, Inc

Included ClinVar conditions (168):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_000489.5(ATRX):c.6794A>G (p.Glu2265Gly) rs1557042387
NM_000533.5(PLP1):c.518C>G (p.Pro173Arg) rs1556269029
NM_001184880.2(PCDH19):c.1477G>A (p.Val493Met) rs773087045
NM_003159.2(CDKL5):c.1892T>C (p.Ile631Thr) rs144878564
NM_004586.3(RPS6KA3):c.764G>A (p.Gly255Asp) rs1555939335
NM_004586.3(RPS6KA3):c.894_902del (p.Arg300_Leu302del) rs1555933769
NM_004992.3(MECP2):c.1126C>T (p.Pro376Ser) rs61752387
NM_005249.5(FOXG1):c.218A>C (p.Gln73Pro) rs760663911
NM_005249.5(FOXG1):c.460_462GAG[1] (p.Glu155del) rs1175471807
NM_005249.5(FOXG1):c.565C>G (p.Leu189Val) rs1555321308
NM_005710.2(PQBP1):c.397C>T (p.Arg133Trp) rs201489630

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