ClinVar Miner

List of variants reported as uncertain significance for Fanconi anemia by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
Download table as spreadsheet
NM_000059.3(BRCA2):c.6013G>T (p.Asp2005Tyr) rs587781760
NM_001114636.1(FANCL):c.147_148delinsTT (p.Lys49_Asn50delinsAsnTyr) rs1558825558
NM_001114636.1(FANCL):c.563_565TAA[1] (p.Ile189del)
NM_005236.2(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049
NM_018193.3(FANCI):c.1743A>C (p.Glu581Asp) rs779310267
NM_018193.3(FANCI):c.557T>C (p.Leu186Pro) rs1370113722
NM_032444.4(SLX4):c.2681T>G (p.Val894Gly) rs145137472
NM_032444.4(SLX4):c.3419A>C (p.Lys1140Thr) rs1374316194
NM_032444.4(SLX4):c.3842G>A (p.Gly1281Glu)
NM_032444.4(SLX4):c.3948_3962del (p.Pro1317_Pro1321del) rs1302525912
NM_033084.5(FANCD2):c.1777C>T (p.Pro593Ser) rs147523071
NM_033084.6(FANCD2):c.1757C>T (p.Ala586Val)

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.