ClinVar Miner

Variants in gene GAMT with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 8
Download table as spreadsheet
HGVS dbSNP
NM_000156.6(GAMT):c.182G>A (p.Gly61Glu) rs77168423
NM_000156.6(GAMT):c.189G>C (p.Arg63=) rs568392459
NM_000156.6(GAMT):c.379G>A (p.Gly127Ser) rs570476209
NM_000156.6(GAMT):c.396C>A (p.Ile132=) rs200500835
NM_000156.6(GAMT):c.581T>C (p.Val194Ala) rs147739199
NM_000156.6(GAMT):c.655G>A (p.Asp219Asn) rs753228876
NM_000156.6(GAMT):c.670G>A (p.Ala224Thr) rs141471799
NM_000156.6(GAMT):c.79T>C (p.Tyr27His) rs200833152

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.