ClinVar Miner

List of variants in gene AMN studied for anemia (disease)

Included ClinVar conditions (263):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 33
Download table as spreadsheet
HGVS dbSNP
AMN, IVS3, A-G, -2
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.1170-6C>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.149T>C (p.Phe50Ser) rs772475317
NM_030943.3(AMN):c.14del (p.Gly5fs) rs386834168
NM_030943.3(AMN):c.208-1G>C rs386834169
NM_030943.3(AMN):c.208-2A>G rs386834170
NM_030943.3(AMN):c.295+1del rs386834171
NM_030943.3(AMN):c.296-9C>T rs373204347
NM_030943.3(AMN):c.318_319CT[3] (p.Asp108fs) rs1555381324
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
NM_030943.3(AMN):c.974_977dup (p.Ala327fs) rs386834179
NM_030943.3(AMN):c.989C>A (p.Ala330Glu)

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.