ClinVar Miner

List of variants reported as pathogenic for syndromic intellectual disability by Illumina Laboratory Services, Illumina

Included ClinVar conditions (203):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs) rs386834055 0.00001
NM_001008537.3(NEXMIF):c.3458dup (p.Asn1153fs) rs1602211123
NM_001172509.2(SATB2):c.1976TCA[1] (p.Ile660del)
NM_001172509.2(SATB2):c.318T>G (p.Tyr106Ter) rs1330378388
NM_001244008.2(KIF1A):c.646C>T (p.Arg216Cys) rs797045164
NM_001282531.3(ADNP):c.2157C>G (p.Tyr719Ter) rs587777526
NM_001282531.3(ADNP):c.539_542del (p.Val180fs) rs1057518345
NM_001347721.2(DYRK1A):c.1072-2A>C
NM_001347721.2(DYRK1A):c.664C>T (p.Arg222Ter) rs780441716
NM_001347721.2(DYRK1A):c.760C>T (p.Arg254Ter) rs886041291
NM_001356.5(DDX3X):c.1135_1136del (p.Met379fs)
NM_001429.4(EP300):c.5688_5689del (p.Ser1897fs)
NM_001904.4(CTNNB1):c.1612C>T (p.Gln538Ter)
NM_001904.4(CTNNB1):c.865_869del (p.Thr289fs)
NM_004380.3(CREBBP):c.1108C>T (p.Arg370Ter) rs1384496494
NM_004586.3(RPS6KA3):c.244-1G>A
NM_006517.5(SLC16A2):c.532dup (p.Ala178fs)
NM_006565.4(CTCF):c.1016G>A (p.Arg339Gln) rs1567610917
NM_006766.5(KAT6A):c.3824_3828del (p.Glu1275fs)
NM_006766.5(KAT6A):c.4980del (p.Gln1660fs)
NM_013275.6(ANKRD11):c.2197C>T (p.Arg733Ter) rs886041791
NM_013275.6(ANKRD11):c.2404_2407del (p.Leu802fs) rs1555529181
NM_013275.6(ANKRD11):c.4087C>T (p.Arg1363Ter) rs1364690005
NM_014795.4(ZEB2):c.3161_3162del (p.Pro1054fs)
NM_014795.4(ZEB2):c.463G>T (p.Glu155Ter)
NM_015100.4(POGZ):c.1679-1G>A
NM_015100.4(POGZ):c.2935C>T (p.Arg979Ter) rs864321674
NM_015335.5(MED13L):c.4108_4114+3del
NM_015338.6(ASXL1):c.2456del (p.Gly819fs)
NM_015338.6(ASXL1):c.2789G>A (p.Trp930Ter)
NM_015559.3(SETBP1):c.2607C>G (p.Ser869Arg)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.