ClinVar Miner

List of variants reported as not provided for aplastic anemia by GenomeConnect, ClinGen

Included ClinVar conditions (98):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024675.4(PALB2):c.298C>T (p.Leu100Phe) rs61756147 0.00021
NM_000135.4(FANCA):c.3665C>T (p.Pro1222Leu) rs374537936 0.00004
NM_000059.4(BRCA2):c.3264dup (p.Gln1089fs) rs80359380 0.00001
GRCh37/hg19 16q24.3(chr16:89874496-89888566)x1
GRCh37/hg19 17q21.31(chr17:41230488-41235856)x3
NM_000059.4(BRCA2):c.5576_5579del (p.Ile1859fs) rs80359520
NM_000059.4(BRCA2):c.8817_8820del (p.Lys2939fs) rs397508010
NM_000987.5(RPL26):c.341del (p.Asp114fs) rs2151671987
NM_024675.4(PALB2):c.2368C>T (p.Gln790Ter) rs886039480
NM_032444.4(SLX4):c.2944G>T (p.Asp982Tyr) rs753733757

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.