ClinVar Miner

List of variants reported as likely benign for Fanconi anemia by Mendelics

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 52
Download table as spreadsheet
HGVS dbSNP
NC_000017.11:g.58692541G>A
NM_000135.4(FANCA):c.3348+7G>T rs185527578
NM_000135.4(FANCA):c.3366C>T (p.His1122=)
NM_000136.3(FANCC):c.-79+98A>G
NM_000136.3(FANCC):c.-87G>A
NM_000136.3(FANCC):c.1155-29A>G
NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro) rs41281202
NM_000136.3(FANCC):c.1161C>T (p.Cys387=) rs548998258
NM_000136.3(FANCC):c.1275C>G (p.Leu425=) rs767126985
NM_000136.3(FANCC):c.1329+10A>G rs977427150
NM_000136.3(FANCC):c.1394A>G (p.Gln465Arg) rs1800368
NM_000136.3(FANCC):c.1534-18C>T
NM_000136.3(FANCC):c.165+11G>C
NM_000136.3(FANCC):c.166-5C>T rs753820400
NM_000136.3(FANCC):c.166-7T>C rs369052148
NM_000136.3(FANCC):c.166-9C>G
NM_000136.3(FANCC):c.17T>C (p.Val6Ala)
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg) rs140781259
NM_000136.3(FANCC):c.687-5G>T
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) rs1800361
NM_000136.3(FANCC):c.844-10_844-8del rs758617953
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser) rs142959373
NM_001113378.1(FANCI):c.1813C>T (p.Leu605Phe) rs117125761
NM_001113378.2(FANCI):c.2636+11C>G
NM_001113378.2(FANCI):c.3652-70_3652-69del
NM_001114636.1(FANCL):c.1036-6T>C rs377052216
NM_005431.2(XRCC2):c.39+8C>G rs200363289
NM_005431.2(XRCC2):c.40-16T>C rs41274991
NM_005431.2(XRCC2):c.808T>G (p.Phe270Val) rs145085742
NM_020937.4(FANCM):c.3296G>A (p.Arg1099His) rs139382267
NM_020937.4(FANCM):c.4465G>A (p.Gly1489Arg)
NM_032444.4(SLX4):c.5248G>T (p.Ala1750Ser)
NM_032444.4(SLX4):c.5249C>T (p.Ala1750Val)
NM_033084.5(FANCD2):c.1634A>G (p.Asn545Ser) rs145522204
NM_033084.5(FANCD2):c.182C>T (p.Thr61Met) rs35110529
NM_033084.5(FANCD2):c.1868A>C (p.Gln623Pro) rs36070315
NM_033084.5(FANCD2):c.2022-5C>T rs4019784
NM_033084.6(FANCD2):c.1118C>T (p.Ser373Leu)
NM_033084.6(FANCD2):c.1143C>T (p.Asp381=)
NM_058216.3(RAD51C):c.1026+43C>T
NM_058216.3(RAD51C):c.115C>T (p.Leu39=)
NM_058216.3(RAD51C):c.141C>T (p.Ser47=) rs568912602
NM_058216.3(RAD51C):c.145+11C>G rs1263551026
NM_058216.3(RAD51C):c.145+12T>G rs377297129
NM_058216.3(RAD51C):c.145+15T>C
NM_058216.3(RAD51C):c.146-3C>T rs765143155
NM_058216.3(RAD51C):c.146-8A>G rs201079501
NM_058216.3(RAD51C):c.262C>T (p.Leu88=) rs786201383
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr) rs61758784
NM_058216.3(RAD51C):c.461A>G (p.Glu154Gly) rs758847241
NM_058216.3(RAD51C):c.572-17G>T rs193023469

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.