ClinVar Miner

List of variants reported as uncertain significance for X-linked syndromic intellectual disability by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_031407.7(HUWE1):c.3896G>A (p.Arg1299Gln) rs781793405 0.00001
NM_004187.5(KDM5C):c.2517-15T>A
NM_031206.7(LAS1L):c.2051G>A (p.Arg684Gln) rs900809839
NM_031407.7(HUWE1):c.10973G>A (p.Cys3658Tyr)

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