ClinVar Miner

List of variants studied for X-linked syndromic intellectual disability by Center for Human Genetics,University of Leuven

Included ClinVar conditions (168):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001356.4(DDX3X):c.577G>T (p.Gly193Ter) rs875989803
NM_001356.4(DDX3X):c.904G>A (p.Gly302Ser) rs875989802
NM_016937.3(POLA1):c.445_507del (p.Lys149_Glu169del) rs1569277866
NM_016937.4(POLA1):c.236T>G (p.Ile79Ser) rs1569271378
NM_016937.4(POLA1):c.328G>A (p.Gly110Arg) rs1569271892
NM_016937.4(POLA1):c.4142C>T (p.Pro1381Leu) rs1569350993
NM_016937.4(POLA1):c.507+1G>A rs1569277899
NM_198270.4(NHS):c.694C>T (p.Gln232Ter) rs875989805

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