ClinVar Miner

List of variants studied for autosomal recessive non-syndromic intellectual disability by Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin

Included ClinVar conditions (71):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_006765.4(TUSC3):c.992C>A (p.Ser331Ter) rs200667343 0.00007
NM_006765.4(TUSC3):c.420dup (p.Gln141fs) rs773426468

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