ClinVar Miner

List of variants in gene SLC4A11 reported by Athena Diagnostics Inc

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001174089.2(SLC4A11):c.2193-4G>A rs10048856 0.06274
NM_001174089.2(SLC4A11):c.2451G>A (p.Thr817=) rs58757394 0.05831
NM_001174089.2(SLC4A11):c.357G>A (p.Ala119=) rs34460295 0.02737
NM_001174089.2(SLC4A11):c.401A>G (p.Asn134Ser) rs34520315 0.01248
NM_001174089.2(SLC4A11):c.2292C>T (p.Pro764=) rs139086376 0.00546
NM_001174089.2(SLC4A11):c.1167C>T (p.Ile389=) rs78274653 0.00393
NM_001174089.2(SLC4A11):c.44-321C>A rs112505411 0.00074
NM_001174089.2(SLC4A11):c.893C>T (p.Ala298Val) rs141705330 0.00038
NM_001174089.2(SLC4A11):c.2176G>A (p.Gly726Arg) rs143965185 0.00029
NM_001174089.2(SLC4A11):c.1944C>T (p.Leu648=) rs376622984 0.00017
NM_001174089.2(SLC4A11):c.1049T>C (p.Ile350Thr) rs370322948 0.00003

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.