ClinVar Miner

List of variants studied for syndromic intellectual disability by Department of Endocrinology and Genetics, Fuzhou Children’s Hospital of Fujian Medical University

Included ClinVar conditions (203):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_003336.4(UBE2A):c.439C>T (p.Gln147Ter)
NM_004187.5(KDM5C):c.4118-2A>G rs2146815883
NM_006565.4(CTCF):c.1699C>T (p.Arg567Trp) rs879255516
NM_031407.7(HUWE1):c.12227C>G (p.Pro4076Arg)

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