ClinVar Miner

List of variants studied for Fanconi anemia complementation group E

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 76
Download table as spreadsheet
HGVS dbSNP
NG_011708.1:g.11963G>A rs878854342
NM_021922.2(FANCE):c.1018G>C (p.Gly340Arg) rs45524646
NM_021922.2(FANCE):c.1027C>T (p.Arg343Trp) rs567313440
NM_021922.2(FANCE):c.1028G>A (p.Arg343Gln) rs45467798
NM_021922.2(FANCE):c.1053T>G (p.Leu351=) rs755165473
NM_021922.2(FANCE):c.1057C>G (p.Pro353Ala) rs878855070
NM_021922.2(FANCE):c.1071C>T (p.Leu357=) rs3823434
NM_021922.2(FANCE):c.1111C>T (p.Arg371Trp)
NM_021922.2(FANCE):c.1116C>T (p.Ile372=) rs143234424
NM_021922.2(FANCE):c.1141C>T (p.Arg381Cys) rs371020401
NM_021922.2(FANCE):c.1189C>A (p.Pro397Thr) rs759782690
NM_021922.2(FANCE):c.1278G>A (p.Met426Ile)
NM_021922.2(FANCE):c.1309A>G (p.Met437Val) rs746770705
NM_021922.2(FANCE):c.1310T>C (p.Met437Thr) rs142903218
NM_021922.2(FANCE):c.1316+10C>T rs200479051
NM_021922.2(FANCE):c.1316G>T (p.Gly439Val) rs776298967
NM_021922.2(FANCE):c.1331T>C (p.Leu444Pro) rs745685973
NM_021922.2(FANCE):c.1333C>T (p.Pro445Ser) rs141551053
NM_021922.2(FANCE):c.1336T>C (p.Trp446Arg) rs1554122137
NM_021922.2(FANCE):c.1383+10C>T rs1060504374
NM_021922.2(FANCE):c.1424A>G (p.Lys475Arg) rs200083899
NM_021922.2(FANCE):c.1459A>G (p.Met487Val) rs373735272
NM_021922.2(FANCE):c.1464C>T (p.Ala488=) rs779775366
NM_021922.2(FANCE):c.1509+3G>A
NM_021922.2(FANCE):c.1509C>T (p.Asn503=) rs147166240
NM_021922.2(FANCE):c.1510-9T>C rs369210475
NM_021922.2(FANCE):c.1520C>T (p.Thr507Ile) rs1413425638
NM_021922.2(FANCE):c.1572G>A (p.Arg524=) rs115195341
NM_021922.2(FANCE):c.1582A>C (p.Lys528Gln) rs767896075
NM_021922.2(FANCE):c.1588G>A (p.Ala530Thr) rs377415237
NM_021922.2(FANCE):c.1591T>A (p.Leu531Met) rs147390386
NM_021922.2(FANCE):c.1606C>G (p.Pro536Ala) rs1060501873
NM_021922.2(FANCE):c.1610G>T (p.Ter537Leu) rs139547269
NM_021922.2(FANCE):c.169C>T (p.Pro57Ser)
NM_021922.2(FANCE):c.206G>A (p.Arg69Gln) rs758238449
NM_021922.2(FANCE):c.210G>A (p.Glu70=) rs1008512809
NM_021922.2(FANCE):c.214C>T (p.Pro72Ser) rs890865684
NM_021922.2(FANCE):c.229C>A (p.Pro77Thr) rs587778335
NM_021922.2(FANCE):c.246G>A (p.Glu82=) rs769779495
NM_021922.2(FANCE):c.248+7C>A rs186563531
NM_021922.2(FANCE):c.253C>T (p.Pro85Ser) rs145068586
NM_021922.2(FANCE):c.266G>T (p.Arg89Leu) rs45600543
NM_021922.2(FANCE):c.274C>T (p.Arg92Trp) rs375195621
NM_021922.2(FANCE):c.284A>G (p.Gln95Arg) rs149097636
NM_021922.2(FANCE):c.298T>A (p.Ser100Thr) rs768911543
NM_021922.2(FANCE):c.311C>G (p.Ala104Gly) rs773580818
NM_021922.2(FANCE):c.316C>T (p.Arg106Trp) rs759034838
NM_021922.2(FANCE):c.31G>A (p.Ala11Thr) rs753304968
NM_021922.2(FANCE):c.355C>T (p.Gln119Ter) rs121434505
NM_021922.2(FANCE):c.358A>G (p.Ile120Val)
NM_021922.2(FANCE):c.365A>T (p.Gln122Leu) rs1554121253
NM_021922.2(FANCE):c.397C>T (p.Leu133Phe) rs759124595
NM_021922.2(FANCE):c.400C>T (p.Arg134Cys) rs181761362
NM_021922.2(FANCE):c.421C>T (p.Arg141Ter) rs121434506
NM_021922.2(FANCE):c.436G>T (p.Val146Leu) rs755204532
NM_021922.2(FANCE):c.457G>A (p.Ala153Thr) rs151276683
NM_021922.2(FANCE):c.480C>A (p.Cys160Ter) rs45509302
NM_021922.2(FANCE):c.4G>C (p.Ala2Pro) rs886061327
NM_021922.2(FANCE):c.52C>T (p.Pro18Ser) rs552241929
NM_021922.2(FANCE):c.559G>A (p.Glu187Lys) rs142746353
NM_021922.2(FANCE):c.561A>G (p.Glu187=) rs1554121329
NM_021922.2(FANCE):c.592G>A (p.Gly198Arg) rs747727711
NM_021922.2(FANCE):c.598C>T (p.Arg200Cys) rs763151358
NM_021922.2(FANCE):c.611C>T (p.Ser204Leu) rs7761870
NM_021922.2(FANCE):c.679G>A (p.Glu227Lys) rs1287242303
NM_021922.2(FANCE):c.736_738delGGA (p.Gly246del) rs45451605
NM_021922.2(FANCE):c.746C>T (p.Ser249Phe)
NM_021922.2(FANCE):c.798G>A (p.Ser266=) rs746542545
NM_021922.2(FANCE):c.812C>T (p.Ala271Val) rs1060501874
NM_021922.2(FANCE):c.856-3C>T rs749111562
NM_021922.2(FANCE):c.929C>A (p.Pro310Gln) rs139600847
NM_021922.2(FANCE):c.929C>G (p.Pro310Arg) rs139600847
NM_021922.2(FANCE):c.953_958delAATGTA (p.Glu318_Ser320delinsGly) rs1475613789
NM_021922.2(FANCE):c.97_105delCTGCAGGCG (p.Leu33_Ala35del) rs780106496
NM_021922.2(FANCE):c.998T>C (p.Leu333Pro) rs770592868
NM_021922.2(FANCE):c.999C>T (p.Leu333=) rs776082827

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.