ClinVar Miner

List of variants studied for syndromic intellectual disability by Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital

Included ClinVar conditions (203):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001289.6(CLIC2):c.392C>A (p.Ala131Glu) rs782547045 0.00001
NM_004187.5(KDM5C):c.2517_2622del rs2146844343
NM_006766.5(KAT6A):c.3921_3922del (p.Glu1307fs) rs2150856658

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