ClinVar Miner

List of variants in gene FANCD2, FANCD2OS studied for DNA repair disease

Included ClinVar conditions (97):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 45
Download table as spreadsheet
HGVS dbSNP
NC_000003.11:g.(?_10127486)_(10140644_?)dup
NM_001018115.2(FANCD2):c.4281+172G>A rs7626117
NM_001018115.2(FANCD2):c.4281+179C>T rs370459744
NM_001018115.2(FANCD2):c.4281+197A>G rs7647987
NM_001018115.2(FANCD2):c.4281+257C>T rs886057694
NM_001018115.2(FANCD2):c.4281+270A>G rs17032386
NM_001018115.2(FANCD2):c.4281+355A>G rs770674504
NM_001018115.2(FANCD2):c.4281+525A>G rs886057695
NM_001018115.2(FANCD2):c.4281+534G>A rs886057696
NM_001018115.2(FANCD2):c.4281+543C>T rs540249462
NM_001018115.2(FANCD2):c.4281+562C>A rs550613588
NM_001018115.2(FANCD2):c.4281+566T>G rs3826
NM_001018115.2(FANCD2):c.4281+597C>T rs548255173
NM_001018115.2(FANCD2):c.4281+673G>A rs9862958
NM_001018115.2(FANCD2):c.4281+685C>T rs11716842
NM_001018115.2(FANCD2):c.4281+823A>G rs886057697
NM_033084.5(FANCD2):c.3165C>T (p.Tyr1055=) rs375929975
NM_033084.5(FANCD2):c.3209A>T (p.His1070Leu) rs759516610
NM_033084.5(FANCD2):c.3351C>T (p.Tyr1117=) rs566518051
NM_033084.5(FANCD2):c.3418G>A (p.Val1140Ile) rs988476435
NM_033084.5(FANCD2):c.3446C>T (p.Ala1149Val) rs147675860
NM_033084.5(FANCD2):c.3494G>A (p.Arg1165Gln) rs549507714
NM_033084.5(FANCD2):c.3524G>A (p.Ser1175Asn) rs151316403
NM_033084.5(FANCD2):c.3535A>G (p.Asn1179Asp) rs949980921
NM_033084.5(FANCD2):c.3645T>A (p.Pro1215=) rs1168183069
NM_033084.5(FANCD2):c.3646A>G (p.Lys1216Glu) rs367552677
NM_033084.5(FANCD2):c.3692T>C (p.Phe1231Ser) rs762915519
NM_033084.5(FANCD2):c.3707G>A (p.Arg1236His) rs121917786
NM_033084.5(FANCD2):c.3710T>C (p.Val1237Ala)
NM_033084.5(FANCD2):c.3734C>T (p.Thr1245Met) rs764775864
NM_033084.5(FANCD2):c.3788A>G (p.Glu1263Gly) rs886057692
NM_033084.5(FANCD2):c.3849+13A>G rs9811771
NM_033084.5(FANCD2):c.3962G>C (p.Arg1321Pro)
NM_033084.5(FANCD2):c.3973C>A (p.Leu1325Met) rs555539811
NM_033084.5(FANCD2):c.4016A>C (p.His1339Pro) rs1559408827
NM_033084.5(FANCD2):c.4038+8G>A rs190990145
NM_033084.5(FANCD2):c.4052C>T (p.Thr1351Met) rs775898191
NM_033084.5(FANCD2):c.4098T>G (p.Leu1366=) rs2272125
NM_033084.5(FANCD2):c.4140T>C (p.Cys1380=)
NM_033084.5(FANCD2):c.4186-13C>T rs755767180
NM_033084.5(FANCD2):c.4186-5T>C rs763801603
NM_033084.5(FANCD2):c.4234_4239del (p.Ser1412_Glu1413del) rs766605179
NM_033084.5(FANCD2):c.4303_4310del (p.Glu1435fs) rs878855172
NM_033084.5(FANCD2):c.4362G>A (p.Leu1454=) rs145889419
NM_033084.5(FANCD2):c.4396C>A (p.Pro1466Thr) rs78896323

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.