ClinVar Miner

List of variants reported as pathogenic for autosomal dominant non-syndromic intellectual disability by GenomeConnect - Simons Searchlight

Included ClinVar conditions (49):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_006734.4(HIVEP2):c.2827C>T (p.Arg943Ter) rs869312841
NM_006734.4(HIVEP2):c.2905C>T (p.Gln969Ter) rs869312842
NM_006734.4(HIVEP2):c.3742C>T (p.Gln1248Ter) rs1562505335
NM_006734.4(HIVEP2):c.5686C>T (p.Gln1896Ter) rs1775204653
NM_006734.4(HIVEP2):c.5900del (p.Ser1967fs) rs1064796034
NM_006734.4(HIVEP2):c.6667C>T (p.Arg2223Ter) rs1562493608

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