ClinVar Miner

List of variants reported as likely pathogenic for aplastic anemia by Mendelics

Included ClinVar conditions (107):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
Download table as spreadsheet
NM_000135.4(FANCA):c.4199G>C (p.Arg1400Pro)
NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter) rs370974124
NM_001082486.1(ACD):c.137delG (p.Arg46Leufs) rs753666055
NM_001113378.2(FANCI):c.3119del (p.Lys1040fs)
NM_002582.4(PARN):c.692A>G (p.Glu231Gly)
NM_020937.4(FANCM):c.5101C>T (p.Gln1701Ter) rs147021911
NM_032043.2(BRIP1):c.205+1del rs1057517648
NM_032043.2(BRIP1):c.3260dup (p.Asn1087fs) rs771654971
NM_032043.2(BRIP1):c.720del (p.Lys240fs) rs1567838246
NM_032043.3(BRIP1):c.1936-2A>C rs878855143
NM_032043.3(BRIP1):c.1941G>C (p.Trp647Cys) rs786202760
NM_032444.4(SLX4):c.4088C>A (p.Ser1363Ter)
NM_032444.4(SLX4):c.4881del (p.Thr1628fs)
NM_058216.3(RAD51C):c.1000del (p.Glu334fs) rs1567817415
NM_058216.3(RAD51C):c.656T>C (p.Leu219Ser) rs201529791
NM_058216.3(RAD51C):c.773G>A (p.Arg258His) rs267606997
NM_058216.3(RAD51C):c.837+2T>C rs1567799943
NM_058216.3(RAD51C):c.853C>T (p.Gln285Ter)

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.