ClinVar Miner

List of variants in gene TBL1XR1 reported by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 27
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024665.7(TBL1XR1):c.766+5A>G rs3749234 0.21092
NM_024665.7(TBL1XR1):c.669A>G (p.Pro223=) rs61750378 0.00631
NM_024665.7(TBL1XR1):c.291A>G (p.Gln97=) rs61750379 0.00455
NM_024665.7(TBL1XR1):c.343G>A (p.Ala115Thr) rs375411293 0.00022
NM_024665.7(TBL1XR1):c.90A>C (p.Ile30=) rs201359736 0.00009
NM_024665.7(TBL1XR1):c.346G>T (p.Ala116Ser) rs372813783 0.00006
NM_024665.7(TBL1XR1):c.1424C>T (p.Ala475Val) rs753533374 0.00005
NM_024665.7(TBL1XR1):c.171A>G (p.Leu57=) rs144606780 0.00003
NM_024665.7(TBL1XR1):c.353C>T (p.Ala118Val) rs749382891 0.00002
NM_024665.7(TBL1XR1):c.1291C>G (p.Arg431Gly) rs755371824 0.00001
NM_024665.7(TBL1XR1):c.1527A>C (p.Val509=) rs768850049 0.00001
NM_024665.7(TBL1XR1):c.1545G>A (p.Ter515=) rs371553222 0.00001
NM_024665.7(TBL1XR1):c.915T>A (p.Pro305=) rs1399203622 0.00001
NM_024665.7(TBL1XR1):c.1145A>G (p.Asn382Ser) rs1282634331
NM_024665.7(TBL1XR1):c.1203A>G (p.Pro401=)
NM_024665.7(TBL1XR1):c.1217C>G (p.Thr406Ser) rs1020225336
NM_024665.7(TBL1XR1):c.130G>A (p.Val44Ile) rs1553817638
NM_024665.7(TBL1XR1):c.1341T>G (p.Ser447Arg) rs1553808295
NM_024665.7(TBL1XR1):c.1373C>A (p.Ala458Glu) rs1714225458
NM_024665.7(TBL1XR1):c.1428A>G (p.Leu476=) rs544818049
NM_024665.7(TBL1XR1):c.1454G>A (p.Gly485Glu) rs1713136217
NM_024665.7(TBL1XR1):c.399G>A (p.Gly133=) rs751925024
NM_024665.7(TBL1XR1):c.436A>G (p.Thr146Ala)
NM_024665.7(TBL1XR1):c.542G>C (p.Ser181Thr)
NM_024665.7(TBL1XR1):c.595A>C (p.Ser199Arg)
NM_024665.7(TBL1XR1):c.689C>T (p.Ser230Phe) rs1553815393
NM_024665.7(TBL1XR1):c.783C>G (p.Thr261=)

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.