ClinVar Miner

List of variants reported as benign for immunodeficiency-centromeric instability-facial anomalies syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006892.4(DNMT3B):c.*827A>G rs2424932 0.71093
NM_006892.4(DNMT3B):c.1572T>C (p.Cys524=) rs6058891 0.59749
NM_006892.4(DNMT3B):c.1674T>C (p.Tyr558=) rs2424922 0.59732
NM_006892.4(DNMT3B):c.1906-5T>C rs2424928 0.58051
NM_006892.4(DNMT3B):c.1760-5C>G rs1997797 0.55509
NM_006892.4(DNMT3B):c.1252+13T>G rs910085 0.42898
NM_006892.4(DNMT3B):c.*443C>T rs6058896 0.07771
NM_006892.4(DNMT3B):c.1881C>T (p.Asp627=) rs17123657 0.05837
NM_006892.4(DNMT3B):c.1878C>T (p.Asn626=) rs17123655 0.02475
NM_006892.4(DNMT3B):c.-274C>T rs139762513 0.02116
NM_006892.4(DNMT3B):c.1996+6C>T rs77355896 0.01863
NM_006892.4(DNMT3B):c.1413C>T (p.Asp471=) rs6119965 0.01256
NM_006892.4(DNMT3B):c.1150G>A (p.Ala384Thr) rs150682895 0.00967
NM_006892.4(DNMT3B):c.*75C>G rs6119971 0.00868
NM_006892.4(DNMT3B):c.*895T>C rs116329759 0.00684
NM_006892.4(DNMT3B):c.1557G>A (p.Gln519=) rs150314851 0.00416
NM_006892.4(DNMT3B):c.1211A>G (p.Tyr404Cys) rs143462810 0.00023
NM_006892.4(DNMT3B):c.336C>T (p.Ser112=) rs199763590 0.00008
NM_006892.4(DNMT3B):c.*1318del rs398088406
NM_006892.4(DNMT3B):c.1760-8C>G rs2424926

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.