ClinVar Miner

List of variants reported as pathogenic for syndromic intellectual disability by Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin

Included ClinVar conditions (203):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NC_000008.10:g.100246250_100460500del
NM_000540.3(RYR1):c.742G>C (p.Gly248Arg) rs1801086
NM_001347721.2(DYRK1A):c.367G>T (p.Glu123Ter)
NM_001356.5(DDX3X):c.1541T>C (p.Ile514Thr) rs796052226
NM_001356.5(DDX3X):c.693_694del (p.Ala232fs)
NM_001367721.1(CASK):c.1976G>A (p.Gly659Asp) rs727505397
NM_001904.4(CTNNB1):c.999del (p.Thr332_Tyr333insTer)
NM_003070.5(SMARCA2):c.3655G>C (p.Ala1219Pro)
NM_004187.5(KDM5C):c.3624G>A (p.Trp1208Ter)
NM_004380.3(CREBBP):c.6116dup (p.Ile2040fs)
NM_013275.6(ANKRD11):c.2716C>T (p.Arg906Ter) rs929007085
NM_013275.6(ANKRD11):c.3704_3707del (p.Lys1235fs) rs1555528354
NM_013275.6(ANKRD11):c.7470+5G>C
NM_015335.5(MED13L):c.5751_5752insTACTACA (p.Glu1918fs)
NM_015570.4(AUTS2):c.376C>T (p.Arg126Ter) rs1562957809
NM_024665.7(TBL1XR1):c.420dup (p.Ile141fs)
NM_031407.7(HUWE1):c.9208C>T (p.Arg3070Cys) rs886041876
NM_152564.5(VPS13B):c.3446-23T>G rs2133510569

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