ClinVar Miner

List of variants in gene combination FANCD2, LOC107303338 reported as likely benign for aplastic anemia

Included ClinVar conditions (107):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 45
Download table as spreadsheet
HGVS dbSNP
NM_001018115.3(FANCD2):c.1118C>T (p.Ser373Leu)
NM_001018115.3(FANCD2):c.1614A>C (p.Thr538=)
NM_033084.5(FANCD2):c.1130A>G (p.His377Arg) rs141141752
NM_033084.5(FANCD2):c.1134+10A>G rs758751922
NM_033084.5(FANCD2):c.1134+8T>G rs373232961
NM_033084.5(FANCD2):c.1170C>T (p.Ser390=) rs112887807
NM_033084.5(FANCD2):c.1179T>C (p.Thr393=) rs72492998
NM_033084.5(FANCD2):c.1275C>T (p.Tyr425=) rs764447374
NM_033084.5(FANCD2):c.1311G>A (p.Ser437=) rs564577177
NM_033084.5(FANCD2):c.1336C>G (p.Leu446Val) rs34557223
NM_033084.5(FANCD2):c.1367T>G (p.Leu456Arg) rs35782247
NM_033084.5(FANCD2):c.1440T>C (p.His480=) rs375412395
NM_033084.5(FANCD2):c.1470T>C (p.Asp490=) rs567183176
NM_033084.5(FANCD2):c.1545+9T>C rs769459614
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.1917C>A (p.Ile639=) rs151224882
NM_033084.5(FANCD2):c.2022-5C>T rs4019784
NM_033084.5(FANCD2):c.2067C>T (p.Tyr689=) rs763189891
NM_033084.5(FANCD2):c.2103G>T (p.Pro701=) rs139033444
NM_033084.5(FANCD2):c.2181G>A (p.Pro727=) rs560600678
NM_033084.5(FANCD2):c.2273G>C (p.Cys758Ser) rs540805431
NM_033084.5(FANCD2):c.2418T>G (p.Pro806=) rs61751577
NM_033084.5(FANCD2):c.2469A>G (p.Gln823=) rs574054963
NM_033084.5(FANCD2):c.2484G>A (p.Lys828=) rs55980657
NM_033084.5(FANCD2):c.2495-4T>G rs1553612428
NM_033084.5(FANCD2):c.2613A>C (p.Lys871Asn) rs56041034
NM_033084.5(FANCD2):c.2826G>C (p.Thr942=) rs200118565
NM_033084.5(FANCD2):c.311T>C (p.Ile104Thr) rs143936557
NM_033084.5(FANCD2):c.438+8T>G rs762114353
NM_033084.5(FANCD2):c.491+10G>A rs17032279
NM_033084.5(FANCD2):c.538C>T (p.Leu180=) rs373835427
NM_033084.5(FANCD2):c.672C>T (p.His224=) rs371928644
NM_033084.5(FANCD2):c.813G>A (p.Ser271=) rs773072936
NM_033084.5(FANCD2):c.864C>T (p.Ser288=) rs780547790
NM_033084.5(FANCD2):c.986C>G (p.Ala329Gly) rs116736407
NM_033084.6(FANCD2):c.1143C>T (p.Asp381=)
NM_033084.6(FANCD2):c.1200C>T (p.Asp400=)
NM_033084.6(FANCD2):c.1698C>T (p.Thr566=)
NM_033084.6(FANCD2):c.2058G>A (p.Leu686=)
NM_033084.6(FANCD2):c.2142G>A (p.Pro714=)
NM_033084.6(FANCD2):c.2175G>A (p.Val725=)
NM_033084.6(FANCD2):c.2373C>T (p.Asn791=)
NM_033084.6(FANCD2):c.888+8C>G

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.