ClinVar Miner

List of variants studied for autosomal recessive non-syndromic intellectual disability by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

Included ClinVar conditions (71):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val) rs141976414 0.00080
NM_006895.3(HNMT):c.623T>C (p.Leu208Pro) rs745756308
NM_021937.5(EEFSEC):c.1169A>C (p.Asp390Ala)

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