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 (212):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
GRCh37/hg19 Xq21.1(chrX:77238734-77312616)
NM_000033.4(ABCD1):c.1201C>T (p.Arg401Trp) rs727503786
NM_000252.2(MTM1):c.226G>T (p.Glu76Ter) rs1057516031
NM_001037811.2(HSD17B10):c.388C>T (p.Arg130Cys) rs28935475
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_017547.4(FOXRED1):c.1261G>A (p.Val421Met)

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