ClinVar Miner

List of variants in gene CBS reported as likely benign for amino acid or protein metabolism disease with epilepsy

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 82
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HGVS dbSNP
NM_000071.2(CBS):c.*34G>A rs374464201
NM_000071.2(CBS):c.*383C>T rs73372352
NM_000071.2(CBS):c.-160C>T rs112271970
NM_000071.2(CBS):c.1040-6C>G rs767372401
NM_000071.2(CBS):c.1065G>A (p.Ala355=) rs748552493
NM_000071.2(CBS):c.1074G>A (p.Val358=) rs570135008
NM_000071.2(CBS):c.1125C>T (p.Pro375=) rs146180894
NM_000071.2(CBS):c.1145+7C>T rs201158177
NM_000071.2(CBS):c.1145+9C>T rs745997797
NM_000071.2(CBS):c.1146-7C>T rs376749931
NM_000071.2(CBS):c.1161C>T (p.Ser387=) rs149280976
NM_000071.2(CBS):c.1209G>A (p.Thr403=) rs199967147
NM_000071.2(CBS):c.1266G>A (p.Pro422=) rs150146702
NM_000071.2(CBS):c.1272C>T (p.Thr424=) rs141717913
NM_000071.2(CBS):c.1287C>T (p.Ile429=) rs770442169
NM_000071.2(CBS):c.1316G>A (p.Arg439Gln) rs756467921
NM_000071.2(CBS):c.1338G>A (p.Ala446=) rs373962057
NM_000071.2(CBS):c.133C>T (p.Arg45Trp) rs201372812
NM_000071.2(CBS):c.1341C>T (p.Pro447=) rs371493662
NM_000071.2(CBS):c.1358+15C>G rs186497436
NM_000071.2(CBS):c.1359-14C>T rs115185587
NM_000071.2(CBS):c.1359-9G>A rs202137317
NM_000071.2(CBS):c.1380G>A (p.Thr460=) rs765134080
NM_000071.2(CBS):c.138C>T (p.Pro46=) rs532584017
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.1479G>A (p.Thr493=) rs143225442
NM_000071.2(CBS):c.147G>A (p.Pro49=) rs771719483
NM_000071.2(CBS):c.1485G>A (p.Thr495=) rs369903148
NM_000071.2(CBS):c.1494G>A (p.Arg498=) rs778800147
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.1593C>T (p.Phe531=) rs768230991
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.183C>T (p.Ser61=) rs753906914
NM_000071.2(CBS):c.18C>T (p.Pro6=) rs777370660
NM_000071.2(CBS):c.215A>T (p.Lys72Ile) rs192232907
NM_000071.2(CBS):c.351C>T (p.Ser117=) rs769149281
NM_000071.2(CBS):c.384G>A (p.Glu128=) rs374593242
NM_000071.2(CBS):c.429C>T (p.Ile143=) rs370167302
NM_000071.2(CBS):c.435G>A (p.Pro145=) rs148782895
NM_000071.2(CBS):c.441C>T (p.Ser147=) rs367669819
NM_000071.2(CBS):c.456C>T (p.Ile152=) rs769438280
NM_000071.2(CBS):c.474G>A (p.Ala158=) rs189362155
NM_000071.2(CBS):c.501C>T (p.Ile167=) rs754246295
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.609C>T (p.His203=) rs142313595
NM_000071.2(CBS):c.612G>C (p.Val204=) rs539670390
NM_000071.2(CBS):c.612G>T (p.Val204=) rs539670390
NM_000071.2(CBS):c.625C>A (p.Arg209=) rs137939628
NM_000071.2(CBS):c.667-10_667-7del rs376011228
NM_000071.2(CBS):c.675C>T (p.Asn225=) rs145303290
NM_000071.2(CBS):c.708C>T (p.Thr236=) rs748495689
NM_000071.2(CBS):c.72G>A (p.Ala24=) rs145466242
NM_000071.2(CBS):c.832_833ins68 (p.?)
NM_000071.2(CBS):c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA
NM_000071.2(CBS):c.903C>T (p.Tyr301=) rs746575551
NM_000071.2(CBS):c.924C>T (p.Tyr308=) rs149809170
NM_000071.2(CBS):c.954+8G>A rs76292057
NM_000071.2(CBS):c.981C>T (p.Asn327=) rs777898632
NM_000071.3(CBS):c.1041T>A (p.Gly347=) rs573954005
NM_000071.3(CBS):c.1223+8C>A rs747888658
NM_000071.3(CBS):c.1251G>A (p.Leu417=) rs764079534
NM_000071.3(CBS):c.1326C>G (p.Gly442=) rs750627927
NM_000071.3(CBS):c.1356G>A (p.Ala452=) rs776322450
NM_000071.3(CBS):c.1410C>T (p.Ala470=) rs773019624
NM_000071.3(CBS):c.1512G>A (p.Glu504=) rs149170219
NM_000071.3(CBS):c.304A>C (p.Lys102Gln) rs34040148
NM_000071.3(CBS):c.339C>T (p.Asn113=) rs140879135
NM_000071.3(CBS):c.489T>C (p.Tyr163=) rs61735858
NM_000071.3(CBS):c.525C>T (p.Ser175=) rs767850964
NM_000071.3(CBS):c.531+11G>A rs186114513
NM_000071.3(CBS):c.687C>T (p.Pro229=) rs769298649
NM_000071.3(CBS):c.69G>A (p.Ser23=) rs769704501
NM_000071.3(CBS):c.717G>A (p.Glu239=) rs372797469
NM_000071.3(CBS):c.737-10C>T rs546751042
NM_000071.3(CBS):c.829-8C>G rs750081937
NM_000071.3(CBS):c.93G>T (p.Gly31=) rs754409674
NM_000071.3(CBS):c.993G>A (p.Ala331=) rs759398443

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