ClinVar Miner

List of variants in gene CBS reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 278
Download table as spreadsheet
HGVS dbSNP
NC_000021.8:g.(?_44473450)_(44492323_?)dup
NC_000021.8:g.(?_44473970)_(44492323_?)dup
NC_000021.9:g.(?_43053340)_(43056907_?)del
NC_000021.9:g.(?_43053340)_(43076866_?)dup
NC_000021.9:g.(?_43058125)_(43065715_?)del
NC_000021.9:g.(?_43060421)_(43062415_?)dup
NC_000021.9:g.43063074_43063075insTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAGCTCAGCAAAAGCCCCACCTGGATGATCCACCCCAG
NC_000021.9:g.43063074_43063075insTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAGGCCAGCAAAAGCCCCACCTGGATGATCCACCCCAG
NM_000071.2(CBS):c.1005_1006delinsTT (p.Arg336Cys) rs1064793703
NM_000071.2(CBS):c.1006C>T (p.Arg336Cys) rs398123151
NM_000071.2(CBS):c.1007G>A (p.Arg336His) rs760417941
NM_000071.2(CBS):c.1039+3G>A rs747384273
NM_000071.2(CBS):c.1039+6T>G rs1601349690
NM_000071.2(CBS):c.1039G>A (p.Gly347Ser) rs771298943
NM_000071.2(CBS):c.1040-6C>G rs767372401
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.1065G>A (p.Ala355=) rs748552493
NM_000071.2(CBS):c.1070C>G (p.Ala357Gly) rs863223437
NM_000071.2(CBS):c.1072G>A (p.Val358Met) rs148589243
NM_000071.2(CBS):c.1074G>A (p.Val358=) rs570135008
NM_000071.2(CBS):c.1080_1081delinsTA (p.Ala361Thr) rs1555873407
NM_000071.2(CBS):c.1105C>T (p.Arg369Cys) rs117687681
NM_000071.2(CBS):c.1106G>A (p.Arg369His) rs11700812
NM_000071.2(CBS):c.1111G>A (p.Val371Met) rs372010465
NM_000071.2(CBS):c.1114G>A (p.Val372Ile) rs775354680
NM_000071.2(CBS):c.1125C>T (p.Pro375=) rs146180894
NM_000071.2(CBS):c.1126G>A (p.Asp376Asn) rs1170128038
NM_000071.2(CBS):c.1136G>A (p.Arg379Gln) rs763036586
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.1148C>T (p.Thr383Ile) rs1568924550
NM_000071.2(CBS):c.1161C>T (p.Ser387=) rs149280976
NM_000071.2(CBS):c.1205T>C (p.Leu402Pro) rs371214833
NM_000071.2(CBS):c.1209G>A (p.Thr403=) rs199967147
NM_000071.2(CBS):c.1221del (p.Trp408fs) rs1361324844
NM_000071.2(CBS):c.1223+1G>T rs1601339216
NM_000071.2(CBS):c.1224-2A>C rs375846341
NM_000071.2(CBS):c.1224-5C>T rs370071493
NM_000071.2(CBS):c.1237C>T (p.Arg413Cys) rs767595472
NM_000071.2(CBS):c.1257G>A (p.Leu419=) rs138432416
NM_000071.2(CBS):c.1260A>G (p.Ser420=) rs1060503997
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.1273G>A (p.Val425Met) rs138211175
NM_000071.2(CBS):c.1287C>T (p.Ile429=) rs770442169
NM_000071.2(CBS):c.1315C>T (p.Arg439Trp) rs780508029
NM_000071.2(CBS):c.1316G>A (p.Arg439Gln) rs756467921
NM_000071.2(CBS):c.1330G>A (p.Asp444Asn) rs28934891
NM_000071.2(CBS):c.1332C>T (p.Asp444=) rs1060503998
NM_000071.2(CBS):c.1337C>T (p.Ala446Val) rs757347527
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.134G>A (p.Arg45Gln) rs759502207
NM_000071.2(CBS):c.1359-1G>C rs865990681
NM_000071.2(CBS):c.1359-9G>A rs202137317
NM_000071.2(CBS):c.1379C>T (p.Thr460Met) rs752596508
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.144T>G (p.Ala48=) rs770839773
NM_000071.2(CBS):c.1451A>G (p.Tyr484Cys) rs1555871913
NM_000071.2(CBS):c.1451A>T (p.Tyr484Phe) rs1555871913
NM_000071.2(CBS):c.146C>T (p.Pro49Leu) rs148865119
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.1484C>T (p.Thr495Met) rs772344567
NM_000071.2(CBS):c.1485G>A (p.Thr495=) rs369903148
NM_000071.2(CBS):c.151A>C (p.Arg51=) rs754759237
NM_000071.2(CBS):c.1525G>A (p.Ala509Thr) rs1060500680
NM_000071.2(CBS):c.1539C>T (p.His513=) rs187828882
NM_000071.2(CBS):c.1551G>A (p.Gln517=) rs750311684
NM_000071.2(CBS):c.1553-1G>C rs1555869979
NM_000071.2(CBS):c.1553-2A>C rs760609383
NM_000071.2(CBS):c.155G>A (p.Cys52Tyr) rs779777933
NM_000071.2(CBS):c.1563C>T (p.Thr521=) rs773052594
NM_000071.2(CBS):c.1564G>A (p.Gly522Arg) rs201916339
NM_000071.2(CBS):c.1566del (p.Lys523fs) rs786204466
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.1594G>A (p.Gly532Arg) rs748953468
NM_000071.2(CBS):c.1597G>T (p.Val533Leu) rs1568916218
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.1656A>C (p.Ter552Cys) rs1365095601
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.19dup (p.Gln7fs) rs748695461
NM_000071.2(CBS):c.209+5G>C rs1555876750
NM_000071.2(CBS):c.209C>T (p.Pro70Leu) rs2229413
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.253G>A (p.Gly85Arg) rs863223435
NM_000071.2(CBS):c.284T>C (p.Ile95Thr) rs1347662650
NM_000071.2(CBS):c.28del (p.Val10fs) rs779250698
NM_000071.2(CBS):c.296T>A (p.Phe99Tyr) rs112029370
NM_000071.2(CBS):c.297C>G (p.Phe99Leu) rs749697783
NM_000071.2(CBS):c.302T>C (p.Leu101Pro) rs786204757
NM_000071.2(CBS):c.313C>G (p.Leu105Val) rs1601375543
NM_000071.2(CBS):c.316+5G>C rs1601375508
NM_000071.2(CBS):c.325T>C (p.Cys109Arg) rs778220779
NM_000071.2(CBS):c.33G>A (p.Gly11=) rs567323664
NM_000071.2(CBS):c.341C>T (p.Ala114Val) rs121964964
NM_000071.2(CBS):c.34C>T (p.Pro12Ser) rs558259739
NM_000071.2(CBS):c.351C>T (p.Ser117=) rs769149281
NM_000071.2(CBS):c.361C>T (p.Arg121Cys) rs775992753
NM_000071.2(CBS):c.362G>A (p.Arg121His) rs770095972
NM_000071.2(CBS):c.369C>A (p.Ser123Arg) rs1555875387
NM_000071.2(CBS):c.374G>A (p.Arg125Gln) rs781444670
NM_000071.2(CBS):c.384G>A (p.Glu128=) rs374593242
NM_000071.2(CBS):c.393G>C (p.Glu131Asp) rs1555875351
NM_000071.2(CBS):c.394C>T (p.Arg132Cys) rs140002610
NM_000071.2(CBS):c.395G>A (p.Arg132His) rs779011920
NM_000071.2(CBS):c.400G>A (p.Gly134Arg) rs147474549
NM_000071.2(CBS):c.400G>C (p.Gly134Arg) rs147474549
NM_000071.2(CBS):c.401G>C (p.Gly134Ala) rs766958673
NM_000071.2(CBS):c.404C>T (p.Thr135Met) rs144832032
NM_000071.2(CBS):c.422C>T (p.Thr141Met) rs771178320
NM_000071.2(CBS):c.429C>T (p.Ile143=) rs370167302
NM_000071.2(CBS):c.430G>A (p.Glu144Lys) rs121964966
NM_000071.2(CBS):c.430G>C (p.Glu144Gln) rs121964966
NM_000071.2(CBS):c.434C>T (p.Pro145Leu) rs121964963
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.442G>A (p.Gly148Arg) rs755952006
NM_000071.2(CBS):c.451G>T (p.Gly151Trp) rs373782713
NM_000071.2(CBS):c.452-153_624dup rs1568932440
NM_000071.2(CBS):c.456C>T (p.Ile152=) rs769438280
NM_000071.2(CBS):c.457G>A (p.Gly153Arg) rs745704046
NM_000071.2(CBS):c.469G>A (p.Ala157Thr) rs199817801
NM_000071.2(CBS):c.474G>A (p.Ala158=) rs189362155
NM_000071.2(CBS):c.493T>G (p.Cys165Gly) rs1234354755
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.526G>A (p.Glu176Lys) rs762065361
NM_000071.2(CBS):c.52C>T (p.Arg18Cys) rs201827340
NM_000071.2(CBS):c.532-2A>G rs1568932835
NM_000071.2(CBS):c.536_553del (p.Asp179_Leu184del) rs794727835
NM_000071.2(CBS):c.537C>T (p.Asp179=) rs769712423
NM_000071.2(CBS):c.538G>A (p.Val180Met) rs759402521
NM_000071.2(CBS):c.545G>A (p.Arg182Gln) rs138314784
NM_000071.2(CBS):c.548C>T (p.Ala183Val) rs374464810
NM_000071.2(CBS):c.572C>T (p.Thr191Met) rs121964973
NM_000071.2(CBS):c.588G>C (p.Arg196Ser) rs555751528
NM_000071.2(CBS):c.599C>T (p.Pro200Leu) rs758712880
NM_000071.2(CBS):c.5C>T (p.Pro2Leu) rs546530618
NM_000071.2(CBS):c.600G>A (p.Pro200=) rs181472622
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.616G>A (p.Val206Met) rs369220569
NM_000071.2(CBS):c.622T>C (p.Trp208Arg) rs1060500683
NM_000071.2(CBS):c.625C>A (p.Arg209=) rs137939628
NM_000071.2(CBS):c.636C>T (p.Asn212=) rs2298758
NM_000071.2(CBS):c.65A>G (p.His22Arg) rs763151207
NM_000071.2(CBS):c.667-10_667-7del rs376011228
NM_000071.2(CBS):c.667-14_667-7del rs764160782
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.676G>A (p.Ala226Thr) rs763835246
NM_000071.2(CBS):c.689del (p.Leu230fs) rs775351239
NM_000071.2(CBS):c.68C>T (p.Ser23Leu) rs775785018
NM_000071.2(CBS):c.700G>A (p.Asp234Asn) rs773734233
NM_000071.2(CBS):c.708C>T (p.Thr236=) rs748495689
NM_000071.2(CBS):c.710C>T (p.Ala237Val) rs1568931765
NM_000071.2(CBS):c.72G>A (p.Ala24=) rs145466242
NM_000071.2(CBS):c.736+5G>A rs750518463
NM_000071.2(CBS):c.737-1G>C rs757428597
NM_000071.2(CBS):c.737-9G>A rs781068454
NM_000071.2(CBS):c.738delG rs766453711
NM_000071.2(CBS):c.745G>A (p.Asp249Asn) rs767397847
NM_000071.2(CBS):c.749T>A (p.Met250Lys) rs1555874564
NM_000071.2(CBS):c.750G>A (p.Met250Ile) rs863223431
NM_000071.2(CBS):c.766G>A (p.Gly256Ser) rs1000697114
NM_000071.2(CBS):c.770C>T (p.Thr257Met) rs758236584
NM_000071.2(CBS):c.775G>A (p.Gly259Ser) rs143124288
NM_000071.2(CBS):c.785C>T (p.Thr262Met) rs149119723
NM_000071.2(CBS):c.791T>C (p.Ile264Thr) rs760212248
NM_000071.2(CBS):c.797G>A (p.Arg266Lys) rs121964969
NM_000071.2(CBS):c.816T>A (p.Cys272Ter) rs528689432
NM_000071.2(CBS):c.825C>T (p.Cys275=) rs764638041
NM_000071.2(CBS):c.828+1G>A rs763290176
NM_000071.2(CBS):c.832_833insCTGGGGTGGATCACCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA
NM_000071.2(CBS):c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA
NM_000071.2(CBS):c.833_834insCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCAT
NM_000071.2(CBS):c.840G>A (p.Val280=) rs1060500682
NM_000071.2(CBS):c.856A>G (p.Ile286Val) rs147040567
NM_000071.2(CBS):c.857T>C (p.Ile286Thr) rs1060500681
NM_000071.2(CBS):c.866A>G (p.Glu289Gly) rs1601352415
NM_000071.2(CBS):c.887C>T (p.Thr296Met) rs562530775
NM_000071.2(CBS):c.894G>A (p.Gln298=) rs370514077
NM_000071.2(CBS):c.903C>T (p.Tyr301=) rs746575551
NM_000071.2(CBS):c.904G>A (p.Glu302Lys) rs779270933
NM_000071.2(CBS):c.924C>T (p.Tyr308=) rs149809170
NM_000071.2(CBS):c.925G>A (p.Asp309Asn) rs540013184
NM_000071.2(CBS):c.939G>A (p.Thr313=) rs2228298
NM_000071.2(CBS):c.953C>T (p.Thr318Met) rs769541394
NM_000071.2(CBS):c.954+5G>T rs1568928886
NM_000071.2(CBS):c.954+8G>A rs76292057
NM_000071.2(CBS):c.981C>T (p.Asn327=) rs777898632
NM_000071.2(CBS):c.982G>A (p.Asp328Asn) rs758447354
NM_000071.2(CBS):c.992C>A (p.Ala331Glu) rs777919630
NM_000071.3(CBS):c.*540G>A rs111386779
NM_000071.3(CBS):c.1019C>T (p.Ala340Val)
NM_000071.3(CBS):c.1040-10C>T rs1601344657
NM_000071.3(CBS):c.1041T>A (p.Gly347=) rs573954005
NM_000071.3(CBS):c.1065G>C (p.Ala355=) rs748552493
NM_000071.3(CBS):c.1076A>T (p.Lys359Met)
NM_000071.3(CBS):c.1089G>A (p.Glu363=) rs1601343953
NM_000071.3(CBS):c.1098G>A (p.Glu366=) rs1601343873
NM_000071.3(CBS):c.1165A>C (p.Arg389=) rs1601339535
NM_000071.3(CBS):c.1223+8C>A rs747888658
NM_000071.3(CBS):c.1226G>A (p.Trp409Ter)
NM_000071.3(CBS):c.1227G>A (p.Trp409Ter)
NM_000071.3(CBS):c.1251G>A (p.Leu417=) rs764079534
NM_000071.3(CBS):c.1257G>C (p.Leu419=) rs138432416
NM_000071.3(CBS):c.1325G>A (p.Gly442Asp)
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.1358+7C>T rs1341743668
NM_000071.3(CBS):c.1367T>C (p.Leu456Pro)
NM_000071.3(CBS):c.1395C>T (p.Leu465=) rs1601335326
NM_000071.3(CBS):c.1410C>T (p.Ala470=) rs773019624
NM_000071.3(CBS):c.1464A>G (p.Lys488=) rs771312041
NM_000071.3(CBS):c.1467+10C>T rs778008141
NM_000071.3(CBS):c.1467+4C>T
NM_000071.3(CBS):c.1468-6T>G
NM_000071.3(CBS):c.1512G>A (p.Glu504=) rs149170219
NM_000071.3(CBS):c.156C>A (p.Cys52Ter)
NM_000071.3(CBS):c.1576C>A (p.Gln526Lys)
NM_000071.3(CBS):c.1580G>A (p.Arg527Gln)
NM_000071.3(CBS):c.1634C>T (p.Ala545Val)
NM_000071.3(CBS):c.1645G>A (p.Asp549Asn)
NM_000071.3(CBS):c.168G>A (p.Leu56=) rs752055364
NM_000071.3(CBS):c.175C>T (p.Pro59Ser)
NM_000071.3(CBS):c.19del (p.Gln7fs)
NM_000071.3(CBS):c.208_209+8del
NM_000071.3(CBS):c.304A>C (p.Lys102Gln) rs34040148
NM_000071.3(CBS):c.316+7G>A rs1601375483
NM_000071.3(CBS):c.317-8C>T rs1601366707
NM_000071.3(CBS):c.339C>T (p.Asn113=) rs140879135
NM_000071.3(CBS):c.429C>G (p.Ile143Met)
NM_000071.3(CBS):c.441C>A (p.Ser147=) rs367669819
NM_000071.3(CBS):c.451G>A (p.Gly151Arg)
NM_000071.3(CBS):c.476_477insCAGGGCCC (p.Val160fs)
NM_000071.3(CBS):c.489T>C (p.Tyr163=) rs61735858
NM_000071.3(CBS):c.518T>G (p.Met173Arg)
NM_000071.3(CBS):c.525C>T (p.Ser175=) rs767850964
NM_000071.3(CBS):c.52C>A (p.Arg18Ser)
NM_000071.3(CBS):c.54C>T (p.Arg18=) rs1601384537
NM_000071.3(CBS):c.573G>A (p.Thr191=) rs73906420
NM_000071.3(CBS):c.59G>A (p.Gly20Glu)
NM_000071.3(CBS):c.632A>G (p.Lys211Arg)
NM_000071.3(CBS):c.687C>T (p.Pro229=) rs769298649
NM_000071.3(CBS):c.698_699inv (p.Tyr233Cys)
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.720C>A (p.Ile240=) rs769024492
NM_000071.3(CBS):c.731G>A (p.Cys244Tyr)
NM_000071.3(CBS):c.736+7C>T rs757332652
NM_000071.3(CBS):c.736+8C>A rs752611922
NM_000071.3(CBS):c.737-10C>T rs546751042
NM_000071.3(CBS):c.747C>T (p.Asp249=) rs1601356424
NM_000071.3(CBS):c.829-4G>A rs1601352751
NM_000071.3(CBS):c.829-8C>G rs750081937
NM_000071.3(CBS):c.833T>C (p.Ile278Thr) rs5742905
NM_000071.3(CBS):c.862G>T (p.Ala288Ser)
NM_000071.3(CBS):c.919G>A (p.Gly307Ser) rs121964962
NM_000071.3(CBS):c.921C>G (p.Gly307=)
NM_000071.3(CBS):c.936C>T (p.Pro312=) rs1601351871
NM_000071.3(CBS):c.93G>T (p.Gly31=) rs754409674
NM_000071.3(CBS):c.954G>A (p.Thr318=)
NM_000071.3(CBS):c.993G>A (p.Ala331=) rs759398443

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