ClinVar Miner

List of variants in gene GALT reported as likely pathogenic by Baylor Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 33
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000155.4(GALT):c.1006A>T (p.Met336Leu) rs111033810 0.00004
NM_000155.4(GALT):c.1018G>A (p.Glu340Lys) rs111033806 0.00001
NM_000155.4(GALT):c.1138T>C (p.Ter380Arg) rs111033824 0.00001
NM_000155.4(GALT):c.307C>T (p.Gln103Ter) rs1225091358 0.00001
NM_000155.4(GALT):c.379A>G (p.Lys127Glu) rs111033682 0.00001
NM_000155.4(GALT):c.814C>T (p.Arg272Cys) rs111033766 0.00001
NM_000155.4(GALT):c.821-7A>G rs767337193 0.00001
NM_000155.4(GALT):c.883C>A (p.Pro295Thr) rs111033783 0.00001
NM_000155.4(GALT):c.961C>T (p.His321Tyr) rs367543266 0.00001
NM_000155.4(GALT):c.974C>T (p.Pro325Leu) rs111033794 0.00001
NM_000155.4(GALT):c.982C>T (p.Arg328Cys) rs144993986 0.00001
NM_000155.4(GALT):c.1060-2A>G
NM_000155.4(GALT):c.1087G>A (p.Glu363Lys) rs367543273
NM_000155.4(GALT):c.1087G>T (p.Glu363Ter)
NM_000155.4(GALT):c.20del (p.Asp7fs)
NM_000155.4(GALT):c.267C>G (p.Tyr89Ter)
NM_000155.4(GALT):c.292G>C (p.Asp98His) rs111033670
NM_000155.4(GALT):c.29_48delinsGACC (p.Gln10fs) rs1587236467
NM_000155.4(GALT):c.368G>A (p.Arg123Gln) rs111033675
NM_000155.4(GALT):c.37C>T (p.Gln13Ter)
NM_000155.4(GALT):c.41delinsTT (p.Ala14fs) rs111033634
NM_000155.4(GALT):c.428C>T (p.Ser143Leu) rs111033697
NM_000155.4(GALT):c.450del (p.Val151fs)
NM_000155.4(GALT):c.513del (p.Phe171fs) rs886044409
NM_000155.4(GALT):c.550dup (p.His184fs)
NM_000155.4(GALT):c.562C>T (p.Gln188Ter) rs398123182
NM_000155.4(GALT):c.565_578del
NM_000155.4(GALT):c.626A>C (p.Tyr209Ser) rs111033744
NM_000155.4(GALT):c.667C>A (p.Arg223Ser) rs111033750
NM_000155.4(GALT):c.719_728del (p.Leu240fs) rs111033838
NM_000155.4(GALT):c.776G>A (p.Arg259Gln) rs886042070
NM_000155.4(GALT):c.823C>G (p.Leu275Val) rs796051967
NM_000155.4(GALT):c.912_913insGA (p.Thr305fs)

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.