ClinVar Miner

List of variants in gene CBS reported as uncertain significance by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 105
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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
NM_000071.2(CBS):c.1039+3G>A rs747384273
NM_000071.2(CBS):c.1039+6T>G rs1601349690
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_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.1114G>A (p.Val372Ile) rs775354680
NM_000071.2(CBS):c.1148C>T (p.Thr383Ile) rs1568924550
NM_000071.2(CBS):c.1205T>C (p.Leu402Pro) rs371214833
NM_000071.2(CBS):c.1237C>T (p.Arg413Cys) rs767595472
NM_000071.2(CBS):c.1273G>A (p.Val425Met) rs138211175
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.1337C>T (p.Ala446Val) rs757347527
NM_000071.2(CBS):c.134G>A (p.Arg45Gln) rs759502207
NM_000071.2(CBS):c.1379C>T (p.Thr460Met) rs752596508
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.1484C>T (p.Thr495Met) rs772344567
NM_000071.2(CBS):c.1525G>A (p.Ala509Thr) rs1060500680
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.1564G>A (p.Gly522Arg) rs201916339
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.1656A>C (p.Ter552Cys) rs1365095601
NM_000071.2(CBS):c.209+5G>C rs1555876750
NM_000071.2(CBS):c.209C>T (p.Pro70Leu) rs2229413
NM_000071.2(CBS):c.221C>T (p.Pro74Leu) rs762862715
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.313C>G (p.Leu105Val) rs1601375543
NM_000071.2(CBS):c.316+5G>C rs1601375508
NM_000071.2(CBS):c.34C>T (p.Pro12Ser) rs558259739
NM_000071.2(CBS):c.369C>A (p.Ser123Arg) rs1555875387
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.430G>C (p.Glu144Gln) rs121964966
NM_000071.2(CBS):c.451G>T (p.Gly151Trp) rs373782713
NM_000071.2(CBS):c.469G>A (p.Ala157Thr) rs199817801
NM_000071.2(CBS):c.493T>G (p.Cys165Gly) rs1234354755
NM_000071.2(CBS):c.502G>A (p.Val168Met) rs121964970
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.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.616G>A (p.Val206Met) rs369220569
NM_000071.2(CBS):c.622T>C (p.Trp208Arg) rs1060500683
NM_000071.2(CBS):c.65A>G (p.His22Arg) rs763151207
NM_000071.2(CBS):c.670C>T (p.Arg224Cys) rs139456571
NM_000071.2(CBS):c.68C>T (p.Ser23Leu) rs775785018
NM_000071.2(CBS):c.710C>T (p.Ala237Val) rs1568931765
NM_000071.2(CBS):c.736+5G>A rs750518463
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.775G>A (p.Gly259Ser) rs143124288
NM_000071.2(CBS):c.791T>C (p.Ile264Thr) rs760212248
NM_000071.2(CBS):c.825C>T (p.Cys275=) rs764638041
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.925G>A (p.Asp309Asn) rs540013184
NM_000071.2(CBS):c.953C>T (p.Thr318Met) rs769541394
NM_000071.2(CBS):c.954+5G>T rs1568928886
NM_000071.2(CBS):c.982G>A (p.Asp328Asn) rs758447354
NM_000071.3(CBS):c.*540G>A rs111386779
NM_000071.3(CBS):c.1019C>T (p.Ala340Val)
NM_000071.3(CBS):c.1076A>T (p.Lys359Met)
NM_000071.3(CBS):c.1325G>A (p.Gly442Asp)
NM_000071.3(CBS):c.1367T>C (p.Leu456Pro)
NM_000071.3(CBS):c.1467+4C>T
NM_000071.3(CBS):c.1468-6T>G
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.175C>T (p.Pro59Ser)
NM_000071.3(CBS):c.518T>G (p.Met173Arg)
NM_000071.3(CBS):c.52C>A (p.Arg18Ser)
NM_000071.3(CBS):c.59G>A (p.Gly20Glu)
NM_000071.3(CBS):c.632A>G (p.Lys211Arg)
NM_000071.3(CBS):c.698_699inv (p.Tyr233Cys)
NM_000071.3(CBS):c.731G>A (p.Cys244Tyr)
NM_000071.3(CBS):c.862G>T (p.Ala288Ser)
NM_000071.3(CBS):c.921C>G (p.Gly307=)
NM_000071.3(CBS):c.954G>A (p.Thr318=)

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