ClinVar Miner

List of variants reported as likely pathogenic for autosomal dominant non-syndromic intellectual disability by Génétique des Maladies du Développement, Hospices Civils de Lyon

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001321075.3(DLG4):c.1083G>A (p.Ser361=) rs1227093654
NM_001348323.3(TRIP12):c.5801C>T (p.Pro1934Leu)
NM_001374828.1(ARID1B):c.5395-2A>C rs1562350940
NM_002397.5(MEF2C):c.44G>A (p.Arg15His) rs1202957297
NM_003072.5(SMARCA4):c.1947_2001+3del
NM_003072.5(SMARCA4):c.2936G>A (p.Arg979Gln)
NM_003108.4(SOX11):c.322A>G (p.Lys108Glu)

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