ClinVar Miner

List of variants reported as pathogenic for syndromic intellectual disability by Biochemistry Laboratory of CDMU, Chengde 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_001349338.3(FOXP1):c.1630C>T (p.Arg544Ter)
NM_014795.4(ZEB2):c.2177_2180del (p.Ser726fs) rs786204821
NM_015335.5(MED13L):c.6260del (p.Pro2087fs) rs1565982697
Single allele

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