ClinVar Miner

List of variants studied for syndromic intellectual disability by Center of Excellence for Medical Genomics, Chulalongkorn University

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_001184880.2(PCDH19):c.778C>G (p.Leu260Val)
NM_001349338.3(FOXP1):c.319A>T (p.Ile107Phe)
NM_001376.5(DYNC1H1):c.25G>A (p.Gly9Ser)

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