ClinVar Miner

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

Included ClinVar conditions (97):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP
NM_000051.3(ATM):c.2608A>G (p.Asn870Asp) rs61734354
NM_000051.3(ATM):c.290T>C (p.Ile97Thr) rs786203011
NM_000051.3(ATM):c.3925G>A (p.Ala1309Thr) rs149711770
NM_000057.4(BLM):c.1490A>C (p.Gln497Pro) rs368547042
NM_000057.4(BLM):c.3267A>G (p.Gln1089=) rs1396484162
NM_000057.4(BLM):c.3991A>G (p.Arg1331Gly) rs150631940
NM_000057.4(BLM):c.807C>T (p.Ser269=) rs147850738
NM_000059.3(BRCA2):c.6013G>T (p.Asp2005Tyr) rs587781760
NM_001033855.3(DCLRE1C):c.1556C>T (p.Pro519Leu) rs542791233
NM_001113378.1(FANCI):c.1743A>C (p.Glu581Asp) rs779310267
NM_001113378.1(FANCI):c.557T>C (p.Leu186Pro) rs1370113722
NM_002485.4(NBN):c.390A>G (p.Gln130=) rs146150499
NM_005236.2(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049
NM_005591.3(MRE11):c.59A>G (p.Asp20Gly) rs1565242083
NM_006892.4(DNMT3B):c.1490+8C>G rs746731138
NM_018062.3(FANCL):c.147_148delinsTT (p.Lys49_Asn50delinsAsnTyr) rs1558825558
NM_018062.3(FANCL):c.548_550TAA[1] (p.Ile184del)
NM_032444.4(SLX4):c.3419A>C (p.Lys1140Thr) rs1374316194
NM_032444.4(SLX4):c.3948_3962del (p.Pro1317_Pro1321del) rs1302525912
NM_033084.5(FANCD2):c.1777C>T (p.Pro593Ser) rs147523071

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.