ClinVar Miner

List of variants reported as pathogenic for autosomal dominant non-syndromic intellectual disability by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001348323.3(TRIP12):c.4368dup (p.Asn1457fs) rs2041642562
NM_001374828.1(ARID1B):c.1638_1647del (p.Ala547fs) rs1131691339
NM_001374828.1(ARID1B):c.1861C>T (p.Gln621Ter) rs1057518951
NM_001374828.1(ARID1B):c.4383-1G>A rs886044620
NM_001374828.1(ARID1B):c.4479+1G>T rs1554235041
NM_001374828.1(ARID1B):c.6898dup (p.His2300fs) rs1794570475
NM_002397.5(MEF2C):c.965-2A>G rs1759968705
NM_152641.4(ARID2):c.4640_4659del (p.Ala1547fs) rs1943579551

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