ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
Download table as spreadsheet
HGVS dbSNP
NM_000071.2(CBS):c.1009A>G (p.Met337Val) rs372822486
NM_000071.2(CBS):c.1067T>C (p.Val356Ala) rs370163789
NM_000071.2(CBS):c.106A>G (p.Lys36Glu) rs904453895
NM_000071.2(CBS):c.1105C>T (p.Arg369Cys) rs117687681
NM_000071.2(CBS):c.1166G>C (p.Arg389Thr) rs1383178636
NM_000071.2(CBS):c.1262C>A (p.Ala421Asp) rs886039021
NM_000071.2(CBS):c.1273G>A (p.Val425Met) rs138211175
NM_000071.2(CBS):c.134G>A (p.Arg45Gln) rs759502207
NM_000071.2(CBS):c.1358G>A (p.Gly453Glu) rs886039146
NM_000071.2(CBS):c.1431C>A (p.Asp477Glu) rs1555871920
NM_000071.2(CBS):c.1436T>C (p.Val479Ala) rs886038933
NM_000071.2(CBS):c.1472G>A (p.Arg491His) rs747419767
NM_000071.2(CBS):c.210-3C>T rs562656023
NM_000071.2(CBS):c.221C>T (p.Pro74Leu) rs762862715
NM_000071.2(CBS):c.389C>T (p.Ala130Val) rs1301672360
NM_000071.2(CBS):c.394C>A (p.Arg132Ser) rs140002610
NM_000071.2(CBS):c.394C>T (p.Arg132Cys) rs140002610
NM_000071.2(CBS):c.397G>A (p.Asp133Asn) rs539326697
NM_000071.2(CBS):c.469G>A (p.Ala157Thr) rs199817801
NM_000071.2(CBS):c.537C>T (p.Asp179=) rs769712423
NM_000071.2(CBS):c.548C>T (p.Ala183Val) rs374464810
NM_000071.2(CBS):c.670C>T (p.Arg224Cys) rs139456571
NM_000071.2(CBS):c.736+5G>A rs750518463

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.