ClinVar Miner

List of variants in gene AMN reported as likely pathogenic for anemia

Included ClinVar conditions (281):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 28
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_030943.4(AMN):c.1170-6C>T rs386834164 0.00296
NM_030943.4(AMN):c.122C>T (p.Thr41Ile) rs119478058 0.00002
NM_030943.4(AMN):c.1257+10C>T rs386834166 0.00001
NM_030943.4(AMN):c.844-1G>C rs969552874 0.00001
NM_030943.4(AMN):c.1169+2T>C
NM_030943.4(AMN):c.1170-1G>C
NM_030943.4(AMN):c.1253dup (p.Leu419fs) rs386834165
NM_030943.4(AMN):c.1314_1315del (p.His438fs) rs386834167
NM_030943.4(AMN):c.138_162+20del
NM_030943.4(AMN):c.14del (p.Gly5fs) rs386834168
NM_030943.4(AMN):c.207+1G>A
NM_030943.4(AMN):c.295+1del rs386834171
NM_030943.4(AMN):c.296-1G>A
NM_030943.4(AMN):c.43+1G>T rs386834172
NM_030943.4(AMN):c.44-1G>A
NM_030943.4(AMN):c.44-2A>T
NM_030943.4(AMN):c.468dup (p.Gly157fs) rs386834173
NM_030943.4(AMN):c.513+2T>C
NM_030943.4(AMN):c.513+2del
NM_030943.4(AMN):c.514-34G>A rs144077391
NM_030943.4(AMN):c.651+1G>T
NM_030943.4(AMN):c.652-2A>G
NM_030943.4(AMN):c.663G>A (p.Trp221Ter) rs386834174
NM_030943.4(AMN):c.683_730del (p.Gln228_Leu243del) rs386834175
NM_030943.4(AMN):c.701G>T (p.Cys234Phe) rs386834176
NM_030943.4(AMN):c.742C>T (p.Gln248Ter) rs386834177
NM_030943.4(AMN):c.760+1G>A rs1555381485
NM_030943.4(AMN):c.761G>A (p.Gly254Glu) rs386834178

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.