ClinVar Miner

List of variants in gene AK1, ST6GALNAC4-ST6GALNAC6-AK1 studied for anemia

Included ClinVar conditions (292):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 34
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000476.3(AK1):c.477T>C (p.Pro159=) rs913986 0.99820
NM_000476.3(AK1):c.367G>C (p.Glu123Gln) rs8192462 0.02507
NM_000476.3(AK1):c.517-18C>T rs7031929 0.01694
NM_000476.3(AK1):c.186G>A (p.Glu62=) rs61742069 0.01671
NM_000476.3(AK1):c.102C>T (p.Tyr34=) rs61741075 0.00832
NM_000476.3(AK1):c.484G>A (p.Ala162Thr) rs35902264 0.00726
NM_000476.3(AK1):c.8-376C>T rs116301334 0.00725
NM_000476.3(AK1):c.44-16G>A rs74522986 0.00464
NM_000476.3(AK1):c.325-9C>T rs145431113 0.00160
NM_000476.3(AK1):c.118G>A (p.Gly40Arg) rs137853204 0.00001
NM_000476.3(AK1):c.190G>A (p.Gly64Arg) rs137853205 0.00001
NM_000476.3(AK1):c.90G>T (p.Gln30His) rs141933637 0.00001
NM_000476.3(AK1):c.139del (p.Val47fs) rs387906583
NM_000476.3(AK1):c.148_149delinsAA (p.Gly50Asn)
NM_000476.3(AK1):c.153G>A (p.Ser51=)
NM_000476.3(AK1):c.158G>A (p.Arg53Lys)
NM_000476.3(AK1):c.229C>T (p.Arg77Trp)
NM_000476.3(AK1):c.238A>G (p.Met80Val)
NM_000476.3(AK1):c.254A>G (p.Asn85Ser)
NM_000476.3(AK1):c.301C>A (p.Gln101Lys) rs2131401746
NM_000476.3(AK1):c.319C>T (p.Arg107Ter) rs104894102
NM_000476.3(AK1):c.382C>T (p.Arg128Trp) rs104894101
NM_000476.3(AK1):c.409G>A (p.Gly137Arg)
NM_000476.3(AK1):c.418GAC[1] (p.Asp141del) rs387906582
NM_000476.3(AK1):c.491A>G (p.Tyr164Cys) rs137853203
NM_000476.3(AK1):c.516+11C>A rs115263629
NM_000476.3(AK1):c.516+11C>T rs115263629
NM_000476.3(AK1):c.522C>T (p.Asn174=) rs150064330
NM_000476.3(AK1):c.530G>A (p.Gly177Asp)
NM_000476.3(AK1):c.530G>T (p.Gly177Val) rs201453879
NM_000476.3(AK1):c.535G>C (p.Val179Leu)
NM_000476.3(AK1):c.55T>G (p.Ser19Ala)
NM_000476.3(AK1):c.78G>C (p.Glu26Asp)
NM_000476.3(AK1):c.8-321C>T

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.