ClinVar Miner

List of variants reported as likely pathogenic for syndromic intellectual disability by Laboratory of Medical Genetics, University of Torino

Included ClinVar conditions (203):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_002063.4(GLRA2):c.1186C>A (p.Pro396Thr) rs368138282 0.00002
NM_001032382.2(PQBP1):c.233C>A (p.Pro78Gln)
NM_001349338.3(FOXP1):c.1406C>T (p.Thr469Ile) rs2037853932
NM_001371928.1(AHDC1):c.3025C>G (p.Pro1009Ala)
NM_001429.4(EP300):c.3671+5G>C
NM_003620.4(PPM1D):c.1434C>A (p.Cys478Ter)
NM_004187.5(KDM5C):c.1204G>A (p.Asp402Asn)
NM_013275.6(ANKRD11):c.211_226+1del
NM_014795.4(ZEB2):c.3160C>G (p.Pro1054Ala)
NM_014927.5(CNKSR2):c.1198C>T (p.Arg400Ter)
NM_015335.5(MED13L):c.5364+1G>T
NM_018026.4(PACS1):c.298C>T (p.Gln100Ter)

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