List of variants in gene AMT reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 27

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000481.4(AMT):c.631G>A (p.Glu211Lys)	rs116192290	0.00735
NM_000481.4(AMT):c.354G>A (p.Leu118=)	rs145194293	0.00072
NM_000481.4(AMT):c.635T>C (p.Val212Ala)	rs201141125	0.00026
NM_000481.4(AMT):c.152C>T (p.Ala51Val)	rs34812788	0.00024
NM_000481.4(AMT):c.363C>T (p.Asn121=)	rs367604855	0.00015
NM_000481.4(AMT):c.858C>A (p.Gly286=)	rs367726589	0.00014
NM_000481.4(AMT):c.195C>T (p.His65=)	rs145243292	0.00004
NM_000481.4(AMT):c.959G>A (p.Arg320His)	rs121964985	0.00004
NM_000481.4(AMT):c.1082C>T (p.Ala361Val)	rs757293245	0.00003
NM_000481.4(AMT):c.217C>T (p.Arg73Cys)	rs386833679	0.00003
NM_000481.4(AMT):c.887G>A (p.Arg296His)	rs386833690	0.00003
NM_000481.4(AMT):c.435C>T (p.Asn145=)	rs1318110345	0.00001
NM_000481.4(AMT):c.665G>A (p.Arg222His)	rs562695274	0.00001
NM_000481.4(AMT):c.879G>C (p.Gly293=)	rs972670254	0.00001
NM_000481.4(AMT):c.891A>G (p.Arg297=)	rs763216113	0.00001
NM_000481.4(AMT):c.996dup (p.His333fs)	rs2049025668	0.00001
NM_000481.4(AMT):c.108A>C (p.Thr36=)	rs1179441264
NM_000481.4(AMT):c.1112G>A (p.Arg371His)	rs147006017
NM_000481.4(AMT):c.130del (p.Ala44fs)	rs2471161142
NM_000481.4(AMT):c.259-6C>T	rs2049102970
NM_000481.4(AMT):c.452_466del (p.Lys151_Leu155del)	rs386833683
NM_000481.4(AMT):c.552C>T (p.Gly184=)	rs771745221
NM_000481.4(AMT):c.705G>T (p.Val235=)	rs1324646911
NM_000481.4(AMT):c.714G>A (p.Ala238=)	rs772179698
NM_000481.4(AMT):c.930C>T (p.Pro310=)	rs2471146376
NM_000481.4(AMT):c.987del (p.Met330fs)	rs1278265933
NM_000481.4(AMT):c.992G>A (p.Arg331Gln)	rs1368099067

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.