List of variants in gene AMN studied for Imerslund-Gräsbeck syndrome

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

Total variants: 50

Download table as spreadsheet

HGVS	dbSNP
NM_030943.3(AMN):c.1006+16_1006+30del	rs386834160
NM_030943.3(AMN):c.1006+34_1006+48del	rs386834161
NM_030943.3(AMN):c.1006+36_1006+50del	rs386834162
NM_030943.3(AMN):c.1014_1021del (p.Leu339fs)	rs386834163
NM_030943.3(AMN):c.1170-37C>G	rs148815688
NM_030943.3(AMN):c.1170-6C>T	rs386834164
NM_030943.3(AMN):c.1253dup (p.Leu419fs)	rs386834165
NM_030943.3(AMN):c.1257+10C>T	rs386834166
NM_030943.3(AMN):c.1312_1313CA[1] (p.His438fs)	rs386834167
NM_030943.3(AMN):c.1343_1348dup (p.Gly448_Ala449dup)	rs36040113
NM_030943.3(AMN):c.14del (p.Gly5fs)	rs386834168
NM_030943.3(AMN):c.165G>A (p.Met55Ile)	rs61731158
NM_030943.3(AMN):c.208-1G>C	rs386834169
NM_030943.3(AMN):c.295+1del	rs386834171
NM_030943.3(AMN):c.296-9C>T	rs373204347
NM_030943.3(AMN):c.363G>A (p.Gly121=)	rs141455061
NM_030943.3(AMN):c.400C>G (p.Arg134Gly)	rs758317090
NM_030943.3(AMN):c.43+1G>T	rs386834172
NM_030943.3(AMN):c.468dup (p.Gly157fs)	rs386834173
NM_030943.3(AMN):c.514-34G>A	rs144077391
NM_030943.3(AMN):c.663G>A (p.Trp221Ter)	rs386834174
NM_030943.3(AMN):c.683_730del (p.Gln228_Leu243del)	rs386834175
NM_030943.3(AMN):c.701G>T (p.Cys234Phe)	rs386834176
NM_030943.3(AMN):c.735C>T (p.Pro245=)	rs546245909
NM_030943.3(AMN):c.742C>T (p.Gln248Ter)	rs386834177
NM_030943.3(AMN):c.760+1G>A	rs1555381485
NM_030943.3(AMN):c.761G>A (p.Gly254Glu)	rs386834178
NM_030943.3(AMN):c.829A>G (p.Thr277Ala)	rs146499374
NM_030943.3(AMN):c.844-1G>C	rs969552874
NM_030943.3(AMN):c.974_977dup (p.Ala327fs)	rs386834179
NM_030943.3(AMN):c.989C>A (p.Ala330Glu)	rs542237999
NM_030943.4(AMN):c.1036A>T (p.Met346Leu)
NM_030943.4(AMN):c.1064G>A (p.Gly355Asp)
NM_030943.4(AMN):c.1137G>T (p.Ala379=)	rs533317064
NM_030943.4(AMN):c.123C>G (p.Thr41=)	rs758005290
NM_030943.4(AMN):c.1348_1353GAGGCC[3] (p.450_451EA[3])	rs763564473
NM_030943.4(AMN):c.1349A>G (p.Glu450Gly)
NM_030943.4(AMN):c.208-10T>C	rs115851517
NM_030943.4(AMN):c.208-2A>G	rs386834170
NM_030943.4(AMN):c.321T>C (p.Ser107=)	rs563004567
NM_030943.4(AMN):c.324C>T (p.Asp108=)	rs7140429
NM_030943.4(AMN):c.492C>G (p.Arg164=)	rs1388154450
NM_030943.4(AMN):c.57G>T (p.Ala19=)	rs145328398
NM_030943.4(AMN):c.773T>C (p.Leu258Ser)	rs190222721
NM_030943.4(AMN):c.791dup (p.Phe265fs)
NM_030943.4(AMN):c.805C>T (p.Arg269Trp)
NM_030943.4(AMN):c.835C>T (p.Leu279=)	rs371426960
NM_030943.4(AMN):c.843+11del	rs1467152225
NM_030943.4(AMN):c.909C>T (p.Ala303=)	rs373382273
NM_030943.4(AMN):c.93C>T (p.Asp31=)	rs772599857

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.