ClinVar Miner

List of variants reported as pathogenic for X-linked syndromic intellectual disability by Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues

Included ClinVar conditions (165):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_001184880.2(PCDH19):c.138_139delinsTT (p.Arg47Ter) rs1555985820
NM_001356.4(DDX3X):c.1171-1G>C
NM_001356.4(DDX3X):c.1807C>T (p.Arg603Ter) rs886041705
NM_003611.3(OFD1):c.363del (p.Ser122fs) rs1555901146
NM_004187.4(KDM5C):c.595C>T (p.Gln199Ter) rs1556852362
NM_004992.3(MECP2):c.952dup (p.Glu318fs)

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