ClinVar Miner

List of variants in gene CBS studied for Cardiovascular phenotype

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 73
Download table as spreadsheet
HGVS dbSNP
NM_000071.2(CBS):c.1009A>G (p.Met337Val) rs372822486
NM_000071.2(CBS):c.1058C>T (p.Thr353Met) rs121964972
NM_000071.2(CBS):c.1059G>A (p.Thr353=) rs61735859
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.1080C>T (p.Ala360=) rs1801181
NM_000071.2(CBS):c.1105C>T (p.Arg369Cys) rs117687681
NM_000071.2(CBS):c.1110C>T (p.Cys370=) rs752404089
NM_000071.2(CBS):c.1125C>T (p.Pro375=) rs146180894
NM_000071.2(CBS):c.1161C>T (p.Ser387=) rs149280976
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.1338G>A (p.Ala446=) rs373962057
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.1413G>C (p.Gly471=) rs777859460
NM_000071.2(CBS):c.1425G>A (p.Pro475=) rs147885808
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.146C>T (p.Pro49Leu) rs148865119
NM_000071.2(CBS):c.1472G>A (p.Arg491His) rs747419767
NM_000071.2(CBS):c.1479G>A (p.Thr493=) rs143225442
NM_000071.2(CBS):c.1524C>T (p.Phe508=) rs748610628
NM_000071.2(CBS):c.1539C>T (p.His513=) rs187828882
NM_000071.2(CBS):c.1563C>T (p.Thr521=) rs773052594
NM_000071.2(CBS):c.1575T>C (p.Ser525=) rs150037641
NM_000071.2(CBS):c.1605C>T (p.Thr535=) rs769221457
NM_000071.2(CBS):c.1632C>T (p.Ala544=) rs566810122
NM_000071.2(CBS):c.1643G>A (p.Arg548Gln) rs150828989
NM_000071.2(CBS):c.1644G>C (p.Arg548=) rs143945898
NM_000071.2(CBS):c.210-3C>T rs562656023
NM_000071.2(CBS):c.215A>T (p.Lys72Ile) rs192232907
NM_000071.2(CBS):c.221C>T (p.Pro74Leu) rs762862715
NM_000071.2(CBS):c.297C>T (p.Phe99=) rs749697783
NM_000071.2(CBS):c.304A>C (p.Lys102Gln) rs34040148
NM_000071.2(CBS):c.321C>T (p.Ala107=) rs1555875422
NM_000071.2(CBS):c.325T>C (p.Cys109Arg) rs778220779
NM_000071.2(CBS):c.342G>A (p.Ala114=) rs145338910
NM_000071.2(CBS):c.351C>T (p.Ser117=) rs769149281
NM_000071.2(CBS):c.381T>A (p.Ile127=) rs199824647
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.441C>T (p.Ser147=) rs367669819
NM_000071.2(CBS):c.469G>A (p.Ala157Thr) rs199817801
NM_000071.2(CBS):c.494G>A (p.Cys165Tyr) rs1347651454
NM_000071.2(CBS):c.501C>T (p.Ile167=) rs754246295
NM_000071.2(CBS):c.502G>A (p.Val168Met) rs121964970
NM_000071.2(CBS):c.52C>T (p.Arg18Cys) rs201827340
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.573G>A (p.Thr191=) rs73906420
NM_000071.2(CBS):c.609C>T (p.His203=) rs142313595
NM_000071.2(CBS):c.612G>C (p.Val204=) rs539670390
NM_000071.2(CBS):c.615G>C (p.Gly205=) rs773114442
NM_000071.2(CBS):c.636C>T (p.Asn212=) rs2298758
NM_000071.2(CBS):c.670C>T (p.Arg224Cys) rs139456571
NM_000071.2(CBS):c.675C>T (p.Asn225=) rs145303290
NM_000071.2(CBS):c.699C>T (p.Tyr233=) rs234706
NM_000071.2(CBS):c.708C>T (p.Thr236=) rs748495689
NM_000071.2(CBS):c.736+5G>A rs750518463
NM_000071.2(CBS):c.786G>A (p.Thr262=) rs551782391
NM_000071.2(CBS):c.797G>A (p.Arg266Lys) rs121964969
NM_000071.2(CBS):c.833T>C (p.Ile278Thr) rs5742905
NM_000071.2(CBS):c.840G>A (p.Val280=) rs1060500682
NM_000071.2(CBS):c.844_845ins68 (p.?)
NM_000071.2(CBS):c.845_846insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCATTGGGGTGGATC (p.Glu283_Gly284insSerArgTrpGlyPheCysTrpAlaTer) rs1555874223
NM_000071.2(CBS):c.894G>A (p.Gln298=) rs370514077
NM_000071.2(CBS):c.919G>A (p.Gly307Ser) rs121964962
NM_000071.2(CBS):c.939G>A (p.Thr313=) rs2228298
NM_000071.2(CBS):c.981C>T (p.Asn327=) rs777898632

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.