ClinVar Miner

List of variants in gene CBS reported as benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 57
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000071.3(CBS):c.1552+154T>C rs234701 0.95648
NM_000071.3(CBS):c.1467+255A>G rs234703 0.54417
NM_000071.3(CBS):c.-8-292G>C rs9980564 0.45776
NM_000071.3(CBS):c.*565C>T rs706209 0.39516
NM_000071.3(CBS):c.*544T>C rs706208 0.39461
NM_000071.3(CBS):c.1146-288T>C rs9325622 0.33776
NM_000071.3(CBS):c.829-265G>A rs2849727 0.33333
NM_000071.3(CBS):c.1080C>T (p.Ala360=) rs1801181 0.30942
NM_000071.3(CBS):c.699C>T (p.Tyr233=) rs234706 0.28613
NM_000071.3(CBS):c.828+237C>T rs1788466 0.21046
NM_000071.3(CBS):c.828+262A>T rs61123777 0.17834
NM_000071.3(CBS):c.1358+264A>G rs6586283 0.17746
NM_000071.3(CBS):c.1145+268C>T rs234704 0.12142
NM_000071.3(CBS):c.1040-322T>C rs73906418 0.11170
NM_000071.3(CBS):c.*299G>A rs12613 0.09051
NM_000071.3(CBS):c.1468-36A>G rs1005585 0.06546
NM_000071.3(CBS):c.451+75G>A rs7279359 0.05794
NM_000071.3(CBS):c.1040-323G>A rs76942167 0.03721
NM_000071.3(CBS):c.954+33G>A rs59521601 0.03588
NM_000071.3(CBS):c.-8-258G>A rs9980464 0.02673
NM_000071.3(CBS):c.316+130G>A rs73372393 0.02025
NM_000071.3(CBS):c.*383C>T rs73372352 0.01854
NM_000071.3(CBS):c.828+114C>T rs73372380 0.01753
NM_000071.3(CBS):c.736+281A>C rs115877954 0.01510
NM_000071.3(CBS):c.1467+191G>A rs111622470 0.01474
NM_000071.3(CBS):c.736+282T>G rs114681211 0.01429
NM_000071.3(CBS):c.736+295G>A rs111590810 0.01371
NM_000071.3(CBS):c.829-91G>A rs150181241 0.01153
NM_000071.3(CBS):c.304A>C (p.Lys102Gln) rs34040148 0.01138
NM_000071.3(CBS):c.829-12C>T rs75616587 0.00698
NM_000071.3(CBS):c.1145+7C>T rs201158177 0.00620
NM_000071.3(CBS):c.573G>A (p.Thr191=) rs73906420 0.00615
NM_000071.3(CBS):c.-8-36G>A rs76178748 0.00467
NM_000071.3(CBS):c.1039+19C>T rs182908734 0.00373
NM_000071.3(CBS):c.52C>T (p.Arg18Cys) rs201827340 0.00086
NM_000071.3(CBS):c.1257G>A (p.Leu419=) rs138432416 0.00083
NM_000071.3(CBS):c.636C>T (p.Asn212=) rs2298758 0.00068
NM_000071.3(CBS):c.1223+13G>A rs533660793 0.00035
NC_000021.9:g.43053136C>G rs73372351
NM_000071.2(CBS):c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA
NM_000071.2(CBS):c.843_844ins68 (p.?)
NM_000071.3(CBS):c.-8-159C>T rs73372396
NM_000071.3(CBS):c.-84-52C>T rs9982921
NM_000071.3(CBS):c.-9+145A>G rs73906425
NM_000071.3(CBS):c.-9+175T>C rs9983620
NM_000071.3(CBS):c.1359-219C>T rs34758144
NM_000071.3(CBS):c.1467+127_1467+157del rs1233162829
NM_000071.3(CBS):c.1468-98G>A rs1005584
NM_000071.3(CBS):c.1553-147del rs372427824
NM_000071.3(CBS):c.209+103del rs147833940
NM_000071.3(CBS):c.210-44_210-43dup rs5844149
NM_000071.3(CBS):c.210-44dup rs5844149
NM_000071.3(CBS):c.316+224C>A rs234715
NM_000071.3(CBS):c.451+142G>A rs2298760
NM_000071.3(CBS):c.451+82C>A rs234707
NM_000071.3(CBS):c.828+238G>A rs234705
NM_001178008.3(CBS):c.-85+195A>C rs184089557

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.