ClinVar Miner

List of variants studied for autosomal recessive non-syndromic intellectual disability by MGZ Medical Genetics Center

Included ClinVar conditions (71):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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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_016042.4(EXOSC3):c.92G>C (p.Gly31Ala) rs387907196 0.00002
NM_001543.5(NDST1):c.1831G>A (p.Gly611Ser) rs606231459 0.00001
NM_001040616.3(LINS1):c.2223GTT[1] (p.Leu743del)
NM_001160372.4(TRAPPC9):c.1840C>T (p.Arg614Ter)
NM_003754.3(EIF3F):c.916C>T (p.Arg306Cys)

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