ClinVar Miner

List of variants in gene CBS reported as uncertain significance for not provided

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Total variants: 52
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HGVS dbSNP
NM_000071.2(CBS):c.*540G>A rs111386779
NM_000071.2(CBS):c.1005C>T (p.Ala335=) rs753731849
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.1064C>T (p.Ala355Val) rs772384826
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.1105C>T (p.Arg369Cys) rs117687681
NM_000071.2(CBS):c.1114G>T (p.Val372Phe) rs775354680
NM_000071.2(CBS):c.112G>A (p.Ala38Thr) rs1064795253
NM_000071.2(CBS):c.1166G>C (p.Arg389Thr) rs1383178636
NM_000071.2(CBS):c.1208C>T (p.Thr403Met) rs886042297
NM_000071.2(CBS):c.1213_1215AAG[1] (p.Lys406del) rs780555741
NM_000071.2(CBS):c.1223+5G>A rs372609349
NM_000071.2(CBS):c.1265C>T (p.Pro422Leu) rs28934892
NM_000071.2(CBS):c.1273G>A (p.Val425Met) rs138211175
NM_000071.2(CBS):c.1316G>A (p.Arg439Gln) rs756467921
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.1411G>A (p.Gly471Arg) rs201098477
NM_000071.2(CBS):c.1472G>A (p.Arg491His) rs747419767
NM_000071.2(CBS):c.1484C>T (p.Thr495Met) rs772344567
NM_000071.2(CBS):c.1526C>T (p.Ala509Val) rs794727161
NM_000071.2(CBS):c.1527C>T (p.Ala509=) rs794727162
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.1594G>A (p.Gly532Arg) rs748953468
NM_000071.2(CBS):c.215A>T (p.Lys72Ile) rs192232907
NM_000071.2(CBS):c.2T>C (p.Met1Thr) rs769766030
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.435G>A (p.Pro145=) rs148782895
NM_000071.2(CBS):c.450C>T (p.Thr150=) rs750030593
NM_000071.2(CBS):c.502G>A (p.Val168Met) rs121964970
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.610G>A (p.Val204Met) rs372679328
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.636C>G (p.Asn212Lys) rs2298758
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.736+5G>A rs750518463
NM_000071.2(CBS):c.750G>A (p.Met250Ile) rs863223431
NM_000071.2(CBS):c.856A>G (p.Ile286Val) rs147040567
NM_000071.2(CBS):c.904G>A (p.Glu302Lys) rs779270933
NM_000071.2(CBS):c.953C>T (p.Thr318Met) rs769541394
NM_000071.2(CBS):c.982G>A (p.Asp328Asn) rs758447354
NM_000071.2(CBS):c.992C>T (p.Ala331Val) rs777919630

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