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: 139
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HGVS dbSNP
NC_000021.9:g.(?_43053340)_(43056907_?)del
NC_000021.9:g.(?_43053860)_(43072213_?)dup
NC_000021.9:g.(?_43058125)_(43065715_?)del
NM_000071.2(CBS):c.*540G>A rs111386779
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.1080_1081delCGinsTA (p.Ala361Thr) rs1555873407
NM_000071.2(CBS):c.1105C>T (p.Arg369Cys) rs117687681
NM_000071.2(CBS):c.1106G>A (p.Arg369His)
NM_000071.2(CBS):c.1125C>T (p.Pro375=) rs146180894
NM_000071.2(CBS):c.1145+7C>T rs201158177
NM_000071.2(CBS):c.1146-7C>T rs376749931
NM_000071.2(CBS):c.1148C>T (p.Thr383Ile)
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.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.1260A>G (p.Ser420=) rs1060503997
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.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)
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.1379C>T (p.Thr460Met)
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.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.1525G>A (p.Ala509Thr) rs1060500680
NM_000071.2(CBS):c.1551G>A (p.Gln517=)
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.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)
NM_000071.2(CBS):c.1643G>A (p.Arg548Gln) rs150828989
NM_000071.2(CBS):c.1656A>C (p.Ter552Cys) rs1365095601
NM_000071.2(CBS):c.18C>T (p.Pro6=) rs777370660
NM_000071.2(CBS):c.19dupC (p.Gln7Profs) 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.284T>C (p.Ile95Thr) rs1347662650
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.304A>C (p.Lys102Gln) rs34040148
NM_000071.2(CBS):c.325T>C (p.Cys109Arg) rs778220779
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.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.404C>T (p.Thr135Met) rs144832032
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.435G>A (p.Pro145=) rs148782895
NM_000071.2(CBS):c.451G>T (p.Gly151Trp)
NM_000071.2(CBS):c.452-154_623dup
NM_000071.2(CBS):c.457G>A (p.Gly153Arg)
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)
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.532-2A>G
NM_000071.2(CBS):c.536_553del18 (p.Asp179_Leu184del) rs794727835
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.573G>A (p.Thr191=) rs73906420
NM_000071.2(CBS):c.588G>C (p.Arg196Ser)
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.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_667-7delTTCT rs376011228
NM_000071.2(CBS):c.667-14_667-7del8 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.708C>T (p.Thr236=) rs748495689
NM_000071.2(CBS):c.710C>T (p.Ala237Val)
NM_000071.2(CBS):c.72G>A (p.Ala24=) rs145466242
NM_000071.2(CBS):c.737-1G>C rs757428597
NM_000071.2(CBS):c.737-9G>A rs781068454
NM_000071.2(CBS):c.738delG (p.Lys247Serfs) rs766453711
NM_000071.2(CBS):c.745G>A (p.Asp249Asn)
NM_000071.2(CBS):c.749T>A (p.Met250Lys) rs1555874564
NM_000071.2(CBS):c.766G>A (p.Gly256Ser)
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.797G>A (p.Arg266Lys) rs121964969
NM_000071.2(CBS):c.832_833insCTGGGGTGGATCACCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA (p.Ile278Thrfs) rs876657421
NM_000071.2(CBS):c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA (p.Ile278Thrfs) rs876657421
NM_000071.2(CBS):c.833T>C (p.Ile278Thr) rs5742905
NM_000071.2(CBS):c.833_834insCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCAT (p.Gly279Glnfs) rs864622693
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.887C>T (p.Thr296Met) rs562530775
NM_000071.2(CBS):c.894G>A (p.Gln298=) rs370514077
NM_000071.2(CBS):c.904G>A (p.Glu302Lys) rs779270933
NM_000071.2(CBS):c.919G>A (p.Gly307Ser) rs121964962
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
NM_000071.2(CBS):c.954+8G>A rs76292057
NM_000071.2(CBS):c.992C>A (p.Ala331Glu) rs777919630

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