ClinVar Miner

List of variants in gene AMT reported as uncertain significance by Ambry Genetics

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_000481.4(AMT):c.635T>C (p.Val212Ala) rs201141125 0.00024
NM_000481.4(AMT):c.1136A>C (p.Glu379Ala) rs201189946 0.00018
NM_000481.4(AMT):c.952C>T (p.Arg318Trp) rs777583902 0.00011
NM_000481.4(AMT):c.463C>T (p.Leu155Phe) rs201233398 0.00009
NM_000481.4(AMT):c.436G>A (p.Ala146Thr) rs570868528 0.00005
NM_000481.4(AMT):c.*86G>T rs745685639 0.00004
NM_000481.4(AMT):c.403A>G (p.Thr135Ala) rs768698117 0.00004
NM_000481.4(AMT):c.100C>T (p.Arg34Cys) rs143389339 0.00002
NM_000481.4(AMT):c.658G>A (p.Val220Met) rs199638653 0.00002
NM_000481.4(AMT):c.139G>A (p.Gly47Arg) rs121964982 0.00001
NM_000481.4(AMT):c.1099T>G (p.Cys367Gly)
NM_000481.4(AMT):c.136G>A (p.Gly46Ser)
NM_000481.4(AMT):c.184C>T (p.Arg62Trp)
NM_000481.4(AMT):c.338A>G (p.Gln113Arg) rs1553638735
NM_000481.4(AMT):c.359C>G (p.Thr120Ser)
NM_000481.4(AMT):c.589G>A (p.Asp197Asn) rs200550585
NM_000481.4(AMT):c.649G>A (p.Gly217Ser)
NM_000481.4(AMT):c.821G>A (p.Gly274Glu)
NM_000481.4(AMT):c.878G>A (p.Gly293Glu)

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.