List of variants studied for megaloblastic anemia by Baylor Genetics

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

Total variants: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_206965.2(FTCD):c.1358C>T (p.Thr453Met)	rs200283734	0.00075
NM_001081.4(CUBN):c.4669C>T (p.Leu1557Phe)	rs140970422	0.00064
NM_001081.4(CUBN):c.7837A>C (p.Ile2613Leu)	rs144626884	0.00031
NM_001081.4(CUBN):c.8701G>A (p.Val2901Ile)	rs201093611	0.00004
NM_080669.6(SLC46A1):c.1082-1G>A	rs80338775	0.00003
NM_030943.4(AMN):c.1324G>A (p.Val442Ile)	rs760175392	0.00002
NM_001081.4(CUBN):c.265A>C (p.Lys89Gln)	rs755860454	0.00001
NM_006996.3(SLC19A2):c.124T>G (p.Phe42Val)	rs1490832268	0.00001
NM_001081.4(CUBN):c.5305G>C (p.Val1769Leu)	rs74116778
NM_001081.4(CUBN):c.7406C>T (p.Pro2469Leu)	rs202229367
NM_080669.6(SLC46A1):c.1061T>G (p.Ile354Ser)	rs1567818058
NM_206965.2(FTCD):c.990dup (p.Pro331fs)	rs398124234

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.