ClinVar Miner

List of variants studied for syndromic intellectual disability by Institute of Human Genetics, University Hospital Muenster

Included ClinVar conditions (203):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001289.6(CLIC2):c.19G>A (p.Gly7Ser) rs782061657 0.00010
NM_004380.3(CREBBP):c.3252C>T (p.Ile1084=) rs190925539 0.00001
NM_014795.4(ZEB2):c.1100C>A (p.Thr367Asn) rs1180969206 0.00001
NM_001349338.3(FOXP1):c.1652+418G>A rs2107186686
NM_006521.6(TFE3):c.560C>T (p.Thr187Met) rs2064742925
NM_015570.4(AUTS2):c.390_393dup (p.Gly132fs)
NM_031407.7(HUWE1):c.2281C>T (p.Arg761Cys)

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