ClinVar Miner

List of variants studied for autosomal recessive non-syndromic intellectual disability by Institute of Human Genetics, University Hospital of Duesseldorf

Included ClinVar conditions (71):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val) rs141976414 0.00080
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_001160372.4(TRAPPC9):c.2173C>T (p.Gln725Ter)
NM_001160372.4(TRAPPC9):c.799G>A (p.Gly267Arg)
NM_006618.5(KDM5B):c.712-4del rs558975598

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