List of variants studied for bone marrow disorder by Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000518.5(HBB):c.316-2A>G	rs33914668	0.00003
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs)	rs80359479
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs)	rs397507552
NM_000135.4(FANCA):c.3439_3440del (p.Asp1147fs)	rs2143106522
NM_007294.4(BRCA1):c.1674del (p.Gly559fs)	rs80357600
NM_007294.4(BRCA1):c.4523G>A (p.Trp1508Ter)	rs786202631

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.