ClinVar Miner

List of variants in gene CBS reported as benign

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Total variants: 70
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HGVS dbSNP
CBS, 68-BP INS
NC_000021.9:g.43071882del
NM_000071.2(CBS):c.*10C>A rs9978104
NM_000071.2(CBS):c.*123C>G rs1051319
NM_000071.2(CBS):c.*18G>A rs200259659
NM_000071.2(CBS):c.*27C>T rs55646248
NM_000071.2(CBS):c.*34G>A rs374464201
NM_000071.2(CBS):c.*544T>C rs706208
NM_000071.2(CBS):c.*565C>T rs706209
NM_000071.2(CBS):c.*98_*102CTGGC[1] rs71872941
NM_000071.2(CBS):c.-8-258G>A
NM_000071.2(CBS):c.-8-292G>C
NM_000071.2(CBS):c.1039+19C>T rs182908734
NM_000071.2(CBS):c.1040-322T>C
NM_000071.2(CBS):c.1040-323G>A
NM_000071.2(CBS):c.1059G>A (p.Thr353=) rs61735859
NM_000071.2(CBS):c.1080C>T (p.Ala360=) rs1801181
NM_000071.2(CBS):c.1145+268C>T
NM_000071.2(CBS):c.1145+7C>T rs201158177
NM_000071.2(CBS):c.1146-288T>C
NM_000071.2(CBS):c.1223+12C>T rs116578198
NM_000071.2(CBS):c.1223+13G>A rs533660793
NM_000071.2(CBS):c.1257G>A (p.Leu419=) rs138432416
NM_000071.2(CBS):c.1266G>A (p.Pro422=) rs150146702
NM_000071.2(CBS):c.1358+264A>G
NM_000071.2(CBS):c.1359-14C>T rs115185587
NM_000071.2(CBS):c.1467+127_1467+157del
NM_000071.2(CBS):c.1467+191G>A
NM_000071.2(CBS):c.1467+255A>G
NM_000071.2(CBS):c.1467+38A>G rs139077204
NM_000071.2(CBS):c.1479G>A (p.Thr493=) rs143225442
NM_000071.2(CBS):c.1539C>T (p.His513=) rs187828882
NM_000071.2(CBS):c.1552+154T>C
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.215A>T (p.Lys72Ile) rs192232907
NM_000071.2(CBS):c.304A>C (p.Lys102Gln) rs34040148
NM_000071.2(CBS):c.316+130G>A
NM_000071.2(CBS):c.317-46G>C rs75873792
NM_000071.2(CBS):c.451+75G>A
NM_000071.2(CBS):c.52C>T (p.Arg18Cys) rs201827340
NM_000071.2(CBS):c.531+11G>A rs186114513
NM_000071.2(CBS):c.531+34G>T rs149674796
NM_000071.2(CBS):c.573G>A (p.Thr191=) rs73906420
NM_000071.2(CBS):c.600G>A (p.Pro200=) rs181472622
NM_000071.2(CBS):c.612G>T (p.Val204=) rs539670390
NM_000071.2(CBS):c.636C>T (p.Asn212=) rs2298758
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.736+281A>C
NM_000071.2(CBS):c.736+282T>G
NM_000071.2(CBS):c.736+295G>A
NM_000071.2(CBS):c.828+237C>T
NM_000071.2(CBS):c.828+23A>G rs73220911
NM_000071.2(CBS):c.828+262A>T
NM_000071.2(CBS):c.829-12C>T rs75616587
NM_000071.2(CBS):c.829-13G>A rs201106576
NM_000071.2(CBS):c.829-14C>T rs370697155
NM_000071.2(CBS):c.829-265G>A
NM_000071.2(CBS):c.829-60C>T rs12329764
NM_000071.2(CBS):c.832_833insCTGGGGTGGATCACCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA rs876657421
NM_000071.2(CBS):c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA rs876657421
NM_000071.2(CBS):c.833_834insCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCAAT (p.Gly279fs) rs1555874235
NM_000071.2(CBS):c.833_834insCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCAT rs864622693
NM_000071.2(CBS):c.843_844ins68 (p.?)
NM_000071.2(CBS):c.844_845insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCATTGGGGTGGATC rs863223428
NM_000071.2(CBS):c.845_846insGAAGGGTCCATCCTCGCAGAGCCGGAGGAGCTGAACCAGACGGAGCAGACAACCTACGAGGTGGAACC (p.Glu283_Gly284insLysGlyProSerSerGlnSerArgArgSerTer) rs786200967
NM_000071.2(CBS):c.939G>A (p.Thr313=) rs2228298
NM_000071.2(CBS):c.954+20C>T rs372327925
NM_000071.2(CBS):c.954+8G>A rs76292057

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