ClinVar Miner

List of variants reported as pathogenic for X-linked syndromic intellectual disability by Victorian Clinical Genetics Services,Murdoch Childrens Research Institute

Included ClinVar conditions (163):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_000033.3(ABCD1):c.1201C>T (p.Arg401Trp) rs727503786
NM_000252.2(MTM1):c.226G>T (p.Glu76Ter) rs1057516031
NM_004992.3(MECP2):c.763C>T (p.Arg255Ter) rs61749721

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