ClinVar Miner

List of variants in gene CBS reported by GeneDx

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Gene type:
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Total variants: 196
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HGVS dbSNP
NC_000021.9:g.43071882del
NM_000071.2(CBS):c.*10C>A rs9978104
NM_000071.2(CBS):c.*18G>A rs200259659
NM_000071.2(CBS):c.*22C>T rs1051316
NM_000071.2(CBS):c.*27C>T rs55646248
NM_000071.2(CBS):c.*28G>A rs367597108
NM_000071.2(CBS):c.*34G>A rs374464201
NM_000071.2(CBS):c.-6C>A
NM_000071.2(CBS):c.-8-258G>A
NM_000071.2(CBS):c.-8-292G>C
NM_000071.2(CBS):c.-85+10G>C rs886057102
NM_000071.2(CBS):c.-9+14G>A rs927172505
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.1009A>C (p.Met337Leu) rs372822486
NM_000071.2(CBS):c.1009A>G (p.Met337Val) rs372822486
NM_000071.2(CBS):c.1039+19C>T rs182908734
NM_000071.2(CBS):c.1039+20G>A rs548871653
NM_000071.2(CBS):c.1039+3G>A rs747384273
NM_000071.2(CBS):c.1039G>A (p.Gly347Ser) rs771298943
NM_000071.2(CBS):c.1040-16G>A rs755940179
NM_000071.2(CBS):c.1040-275G>A
NM_000071.2(CBS):c.1040-322T>C
NM_000071.2(CBS):c.1040-323G>A
NM_000071.2(CBS):c.1051G>C (p.Gly351Arg) rs774926464
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.1070C>G (p.Ala357Gly) rs863223437
NM_000071.2(CBS):c.1072G>A (p.Val358Met) rs148589243
NM_000071.2(CBS):c.1074G>A (p.Val358=)
NM_000071.2(CBS):c.1080C>T (p.Ala360=) rs1801181
NM_000071.2(CBS):c.1087del (p.Glu363fs) rs1064794540
NM_000071.2(CBS):c.1105C>T (p.Arg369Cys) rs117687681
NM_000071.2(CBS):c.1109G>A (p.Cys370Tyr) rs757920190
NM_000071.2(CBS):c.1110C>T (p.Cys370=) rs752404089
NM_000071.2(CBS):c.1111G>A (p.Val371Met) rs372010465
NM_000071.2(CBS):c.1114G>T (p.Val372Phe) rs775354680
NM_000071.2(CBS):c.1125C>T (p.Pro375=) rs146180894
NM_000071.2(CBS):c.112G>A (p.Ala38Thr) rs1064795253
NM_000071.2(CBS):c.1135C>T (p.Arg379Trp) rs769080151
NM_000071.2(CBS):c.1136G>A (p.Arg379Gln) rs763036586
NM_000071.2(CBS):c.1145+241A>G
NM_000071.2(CBS):c.1145+268C>T
NM_000071.2(CBS):c.1145+7C>T rs201158177
NM_000071.2(CBS):c.1145+9C>T rs745997797
NM_000071.2(CBS):c.1146-110C>A
NM_000071.2(CBS):c.1146-20G>A rs1057522600
NM_000071.2(CBS):c.1146-288T>C
NM_000071.2(CBS):c.1146-5C>T rs941685349
NM_000071.2(CBS):c.1161C>T (p.Ser387=) rs149280976
NM_000071.2(CBS):c.1213_1215AAG[1] (p.Lys406del) rs780555741
NM_000071.2(CBS):c.1223+12C>T rs116578198
NM_000071.2(CBS):c.1223+13G>A rs533660793
NM_000071.2(CBS):c.1223+16C>G rs748900028
NM_000071.2(CBS):c.1223+5G>A rs372609349
NM_000071.2(CBS):c.1223G>A (p.Trp408Ter) rs863223433
NM_000071.2(CBS):c.1224-14C>T rs756737169
NM_000071.2(CBS):c.1224-2A>C rs375846341
NM_000071.2(CBS):c.1224-5C>T rs370071493
NM_000071.2(CBS):c.1257G>A (p.Leu419=) rs138432416
NM_000071.2(CBS):c.1265C>T (p.Pro422Leu) rs28934892
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.1280C>T (p.Pro427Leu) rs863223434
NM_000071.2(CBS):c.1330G>A (p.Asp444Asn) rs28934891
NM_000071.2(CBS):c.133C>T (p.Arg45Trp) rs201372812
NM_000071.2(CBS):c.1342G>A (p.Val448Met) rs865989946
NM_000071.2(CBS):c.1353G>C (p.Glu451Asp) rs367962613
NM_000071.2(CBS):c.1358+15C>A rs186497436
NM_000071.2(CBS):c.1358+15C>G rs186497436
NM_000071.2(CBS):c.1358+264A>G
NM_000071.2(CBS):c.1359-14C>T rs115185587
NM_000071.2(CBS):c.1359-18C>T rs770172764
NM_000071.2(CBS):c.1359-9G>A rs202137317
NM_000071.2(CBS):c.1380G>A (p.Thr460=) rs765134080
NM_000071.2(CBS):c.1398G>A (p.Ser466=)
NM_000071.2(CBS):c.1411G>A (p.Gly471Arg) rs201098477
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.1467+191G>A
NM_000071.2(CBS):c.1467+255A>G
NM_000071.2(CBS):c.1467+317G>A
NM_000071.2(CBS):c.1467+98_1467+128del31
NM_000071.2(CBS):c.146C>T (p.Pro49Leu) rs148865119
NM_000071.2(CBS):c.1472G>A (p.Arg491His) rs747419767
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.1494G>A (p.Arg498=) rs778800147
NM_000071.2(CBS):c.1500G>A (p.Ser500=) rs1057522901
NM_000071.2(CBS):c.151A>C (p.Arg51=)
NM_000071.2(CBS):c.1524C>T (p.Phe508=) rs748610628
NM_000071.2(CBS):c.152G>A (p.Arg51Lys) rs370983323
NM_000071.2(CBS):c.1539C>G (p.His513Gln) rs187828882
NM_000071.2(CBS):c.1539C>T (p.His513=) rs187828882
NM_000071.2(CBS):c.1552+154T>C
NM_000071.2(CBS):c.1552+16C>T rs1555871071
NM_000071.2(CBS):c.1552+21_1552+22delTG rs1555871062
NM_000071.2(CBS):c.1553-13G>C rs766380369
NM_000071.2(CBS):c.1553-16C>T rs1057522673
NM_000071.2(CBS):c.1553-48C>T
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.1605C>T (p.Thr535=) rs769221457
NM_000071.2(CBS):c.1626C>T (p.Phe542=) rs758818777
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.183C>T (p.Ser61=) rs753906914
NM_000071.2(CBS):c.19dup (p.Gln7fs) rs748695461
NM_000071.2(CBS):c.209+236G>A
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.228C>T (p.Ile76=) rs1555876151
NM_000071.2(CBS):c.253G>A (p.Gly85Arg) rs863223435
NM_000071.2(CBS):c.296T>A (p.Phe99Tyr) rs112029370
NM_000071.2(CBS):c.304A>C (p.Lys102Gln) rs34040148
NM_000071.2(CBS):c.316+130G>A
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.340G>A (p.Ala114Thr) rs377708532
NM_000071.2(CBS):c.341C>T (p.Ala114Val) rs121964964
NM_000071.2(CBS):c.342G>A (p.Ala114=) rs145338910
NM_000071.2(CBS):c.345C>T (p.Gly115=) rs374438247
NM_000071.2(CBS):c.348G>T (p.Gly116=) rs902976689
NM_000071.2(CBS):c.34C>T (p.Pro12Ser) rs558259739
NM_000071.2(CBS):c.361C>T (p.Arg121Cys) rs775992753
NM_000071.2(CBS):c.394C>T (p.Arg132Cys) rs140002610
NM_000071.2(CBS):c.397G>A (p.Asp133Asn) rs539326697
NM_000071.2(CBS):c.400G>A (p.Gly134Arg) rs147474549
NM_000071.2(CBS):c.401G>C (p.Gly134Ala) rs766958673
NM_000071.2(CBS):c.447C>T (p.Asn149=) rs1457546374
NM_000071.2(CBS):c.451+20G>A rs1057520922
NM_000071.2(CBS):c.451+75G>A
NM_000071.2(CBS):c.452-12G>T rs780064320
NM_000071.2(CBS):c.456C>T (p.Ile152=) rs769438280
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.52C>T (p.Arg18Cys) rs201827340
NM_000071.2(CBS):c.531+11G>A rs186114513
NM_000071.2(CBS):c.531G>C (p.Lys177Asn) rs1064795022
NM_000071.2(CBS):c.536_553del (p.Asp179_Leu184del) rs794727835
NM_000071.2(CBS):c.572C>A (p.Thr191Lys) rs121964973
NM_000071.2(CBS):c.572C>T (p.Thr191Met) rs121964973
NM_000071.2(CBS):c.573G>A (p.Thr191=) rs73906420
NM_000071.2(CBS):c.5C>T (p.Pro2Leu) rs546530618
NM_000071.2(CBS):c.610G>A (p.Val204Met) rs372679328
NM_000071.2(CBS):c.612G>T (p.Val204=) rs539670390
NM_000071.2(CBS):c.615G>C (p.Gly205=) rs773114442
NM_000071.2(CBS):c.616G>A (p.Val206Met) rs369220569
NM_000071.2(CBS):c.625C>A (p.Arg209=) rs137939628
NM_000071.2(CBS):c.636C>G (p.Asn212Lys) rs2298758
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_667-7delTTCT rs376011228
NM_000071.2(CBS):c.667-14_667-7del rs764160782
NM_000071.2(CBS):c.669C>T (p.Tyr223=)
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.689del (p.Leu230fs) rs775351239
NM_000071.2(CBS):c.699C>T (p.Tyr233=) rs234706
NM_000071.2(CBS):c.700G>A (p.Asp234Asn) rs773734233
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.736+2T>G rs863223430
NM_000071.2(CBS):c.736+5G>A rs750518463
NM_000071.2(CBS):c.750G>A (p.Met250Ile) rs863223431
NM_000071.2(CBS):c.770C>T (p.Thr257Met) rs758236584
NM_000071.2(CBS):c.785C>T (p.Thr262Met) rs149119723
NM_000071.2(CBS):c.828+20C>T rs771093015
NM_000071.2(CBS):c.828+237C>T
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.829-320G>A
NM_000071.2(CBS):c.829-3C>T rs780624117
NM_000071.2(CBS):c.829-91G>A
NM_000071.2(CBS):c.833T>C (p.Ile278Thr) rs5742905
NM_000071.2(CBS):c.844C>T (p.Pro282Ser) rs1057518515
NM_000071.2(CBS):c.844_845insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCATTGGGGTGGATC rs863223428
NM_000071.2(CBS):c.856A>G (p.Ile286Val) rs147040567
NM_000071.2(CBS):c.874_875delinsTT (p.Glu292Leu) rs1064795178
NM_000071.2(CBS):c.903C>T (p.Tyr301=) rs746575551
NM_000071.2(CBS):c.919G>A (p.Gly307Ser) rs121964962
NM_000071.2(CBS):c.924C>T (p.Tyr308=) rs149809170
NM_000071.2(CBS):c.939G>A (p.Thr313=) rs2228298
NM_000071.2(CBS):c.954+18C>G rs1057521202
NM_000071.2(CBS):c.954+20C>T rs372327925
NM_000071.2(CBS):c.954+4G>A rs770671402
NM_000071.2(CBS):c.954+7C>T
NM_000071.2(CBS):c.954+8G>A rs76292057
NM_000071.2(CBS):c.955-108C>A
NM_000071.2(CBS):c.969G>A (p.Trp323Ter) rs863223432
NM_000071.2(CBS):c.992C>A (p.Ala331Glu) rs777919630

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