List of variants in gene combination AMN, LOC130056554 reported as uncertain significance for anemia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_030943.4(AMN):c.989C>A (p.Ala330Glu)	rs542237999	0.00018
NM_030943.4(AMN):c.1006G>A (p.Gly336Ser)	rs1339571276	0.00002
NM_030943.4(AMN):c.1064G>A (p.Gly355Asp)	rs1034430613	0.00001
NM_030943.4(AMN):c.1006+6C>T
NM_030943.4(AMN):c.1007-3C>T	rs1318731733
NM_030943.4(AMN):c.1036A>T (p.Met346Leu)	rs1215795347
NM_030943.4(AMN):c.1056C>A (p.His352Gln)	rs773203683
NM_030943.4(AMN):c.1079_1102del (p.Gly360_Ala367del)	rs1034496756
NM_030943.4(AMN):c.1115_1123dup (p.Ala372_Leu374dup)	rs1428691401
NM_030943.4(AMN):c.939_940delinsAT (p.Asn314Tyr)
NM_030943.4(AMN):c.948del (p.Glu317fs)	rs2139312056
NM_030943.4(AMN):c.967C>T (p.Arg323Trp)
NM_030943.4(AMN):c.998C>G (p.Ala333Gly)

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.