ClinVar Miner

List of variants reported as likely pathogenic for autosomal dominant non-syndromic intellectual disability by Laboratory of Medical Genetics, University of Torino

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001374828.1(ARID1B):c.2480C>T (p.Ala827Val)
NM_001374828.1(ARID1B):c.3589G>A (p.Asp1197Asn)
NM_001374828.1(ARID1B):c.5825G>A (p.Trp1942Ter)
NM_003072.5(SMARCA4):c.1646G>T (p.Arg549Leu) rs2145970607
NM_003072.5(SMARCA4):c.3068A>G (p.Glu1023Gly)
NM_003073.5(SMARCB1):c.110G>A (p.Arg37His) rs398122368
NM_003108.4(SOX11):c.159G>T (p.Met53Ile)
NM_006015.6(ARID1A):c.6232G>A (p.Glu2078Lys) rs869312956
NM_006852.6(TLK2):c.1480C>T (p.Arg494Trp)
NM_006852.6(TLK2):c.1586A>G (p.Asp529Gly) rs2082811958
Single allele

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