ClinVar Miner

List of variants in gene SLC46A1 reported as uncertain significance for digestive system disorder

Included ClinVar conditions (605):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_080669.6(SLC46A1):c.158C>T (p.Ala53Val) rs41297069 0.00108
NM_080669.6(SLC46A1):c.512T>A (p.Val171Asp) rs189103810 0.00106
NM_080669.6(SLC46A1):c.623A>T (p.Tyr208Phe) rs201837257 0.00088
NM_080669.6(SLC46A1):c.972C>T (p.Leu324=) rs188529539 0.00081
NM_080669.6(SLC46A1):c.295T>C (p.Phe99Leu) rs201862124 0.00054
NM_080669.6(SLC46A1):c.329G>A (p.Ser110Asn) rs201076728 0.00020
NM_080669.6(SLC46A1):c.85G>A (p.Val29Ile) rs41297067 0.00008
NM_080669.6(SLC46A1):c.849G>A (p.Gly283=) rs782306668 0.00007
NM_080669.6(SLC46A1):c.898G>A (p.Asp300Asn) rs201540617 0.00006
NM_080669.6(SLC46A1):c.341G>T (p.Arg114Leu) rs369959215 0.00004
NM_080669.6(SLC46A1):c.389T>C (p.Val130Ala) rs369191223 0.00004
NM_080669.6(SLC46A1):c.752T>C (p.Ile251Thr) rs782457383 0.00003
NM_080669.6(SLC46A1):c.277G>A (p.Gly93Ser) rs374179004 0.00001
NM_080669.6(SLC46A1):c.462C>T (p.Leu154=) rs782480845 0.00001
NM_080669.6(SLC46A1):c.1061T>G (p.Ile354Ser) rs1567818058
NM_080669.6(SLC46A1):c.189G>T (p.Arg63Ser) rs41297071
NM_080669.6(SLC46A1):c.501C>G (p.Ser167=) rs2068243273
NM_080669.6(SLC46A1):c.667A>T (p.Thr223Ser) rs886052756
NM_080669.6(SLC46A1):c.904A>C (p.Lys302Gln) rs886052755

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.