ClinVar Miner

List of variants in gene CBS reported as benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 75
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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.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.531+11G>A rs186114513 0.00479
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.*34G>A rs374464201 0.00214
NM_000071.3(CBS):c.939G>A (p.Thr313=) rs2228298 0.00204
NM_000071.3(CBS):c.954+8G>A rs76292057 0.00188
NM_000071.3(CBS):c.1059G>A (p.Thr353=) rs61735859 0.00162
NM_000071.3(CBS):c.1359-14C>T rs115185587 0.00137
NM_000071.3(CBS):c.1223+12C>T rs116578198 0.00093
NM_000071.3(CBS):c.*27C>T rs55646248 0.00092
NM_000071.3(CBS):c.52C>T (p.Arg18Cys) rs201827340 0.00086
NM_000071.3(CBS):c.*18G>A rs200259659 0.00083
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.829-13G>A rs201106576 0.00067
NM_000071.3(CBS):c.829-14C>T rs370697155 0.00051
NM_000071.3(CBS):c.954+20C>T rs372327925 0.00051
NM_000071.3(CBS):c.1223+13G>A rs533660793 0.00035
NM_000071.3(CBS):c.1479G>A (p.Thr493=) rs143225442 0.00029
NM_000071.3(CBS):c.1539C>T (p.His513=) rs187828882 0.00013
NM_000071.3(CBS):c.1632C>T (p.Ala544=) rs566810122 0.00010
NM_000071.3(CBS):c.1266G>A (p.Pro422=) rs150146702 0.00006
NM_000071.3(CBS):c.675C>T (p.Asn225=) rs145303290 0.00001
NC_000021.9:g.43053136C>G rs73372351
NM_000071.2(CBS):c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA
NM_000071.2(CBS):c.844_845insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCATTGGGGTGGATC
NM_000071.3(CBS):c.*10C>A rs9978104
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.612G>T (p.Val204=) rs539670390
NM_000071.3(CBS):c.828+238G>A rs234705
NM_001178008.3(CBS):c.-85+195A>C rs184089557

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