ClinVar Miner

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

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Gene type:
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Total variants: 37
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HGVS dbSNP
NM_000071.2(CBS):c.*22C>T rs1051316
NM_000071.2(CBS):c.*28G>A rs367597108
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.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.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.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.152G>A (p.Arg51Lys) rs370983323
NM_000071.2(CBS):c.1539C>G (p.His513Gln) rs187828882
NM_000071.2(CBS):c.215A>T (p.Lys72Ile) rs192232907
NM_000071.2(CBS):c.296T>A (p.Phe99Tyr) rs112029370
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.531G>C (p.Lys177Asn) rs1064795022
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.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.844C>T (p.Pro282Ser) rs1057518515
NM_000071.2(CBS):c.856A>G (p.Ile286Val) rs147040567
NM_000071.2(CBS):c.874_875delinsTT (p.Glu292Leu) rs1064795178

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