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: 56
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HGVS dbSNP gnomAD frequency
NM_000071.3(CBS):c.1105C>T (p.Arg369Cys) rs117687681 0.00255
NM_000071.3(CBS):c.215A>T (p.Lys72Ile) rs192232907 0.00056
NM_000071.3(CBS):c.394C>T (p.Arg132Cys) rs140002610 0.00038
NM_000071.3(CBS):c.856A>G (p.Ile286Val) rs147040567 0.00020
NM_000071.3(CBS):c.397G>A (p.Asp133Asn) rs539326697 0.00019
NM_000071.3(CBS):c.5C>T (p.Pro2Leu) rs546530618 0.00019
NM_000071.3(CBS):c.670C>T (p.Arg224Cys) rs139456571 0.00013
NM_000071.3(CBS):c.1642C>T (p.Arg548Trp) rs766444814 0.00012
NM_000071.3(CBS):c.221C>T (p.Pro74Leu) rs762862715 0.00011
NM_000071.3(CBS):c.1223+5G>A rs372609349 0.00010
NM_000071.3(CBS):c.134G>A (p.Arg45Gln) rs759502207 0.00008
NM_000071.3(CBS):c.400G>A (p.Gly134Arg) rs147474549 0.00008
NM_000071.3(CBS):c.847G>A (p.Glu283Lys) rs765811825 0.00008
NM_000071.3(CBS):c.1315C>T (p.Arg439Trp) rs780508029 0.00006
NM_000071.3(CBS):c.1411G>A (p.Gly471Arg) rs201098477 0.00006
NM_000071.3(CBS):c.1472G>A (p.Arg491His) rs747419767 0.00006
NM_000071.3(CBS):c.610G>A (p.Val204Met) rs372679328 0.00006
NM_000071.3(CBS):c.65A>G (p.His22Arg) rs763151207 0.00006
NM_000071.3(CBS):c.71C>T (p.Ala24Val) rs759682004 0.00004
NM_000071.3(CBS):c.*22C>T rs1051316 0.00003
NM_000071.3(CBS):c.*28G>A rs367597108 0.00003
NM_000071.3(CBS):c.1009A>G (p.Met337Val) rs372822486 0.00003
NM_000071.3(CBS):c.1316G>A (p.Arg439Gln) rs756467921 0.00003
NM_000071.3(CBS):c.1484C>T (p.Thr495Met) rs772344567 0.00003
NM_000071.3(CBS):c.152G>A (p.Arg51Lys) rs370983323 0.00003
NM_000071.3(CBS):c.616G>A (p.Val206Met) rs369220569 0.00003
NM_000071.3(CBS):c.1342G>A (p.Val448Met) rs865989946 0.00002
NM_000071.3(CBS):c.301C>G (p.Leu101Val) rs369644531 0.00002
NM_000071.3(CBS):c.1070C>G (p.Ala357Gly) rs863223437 0.00001
NM_000071.3(CBS):c.1353G>C (p.Glu451Asp) rs367962613 0.00001
NM_000071.3(CBS):c.1600G>A (p.Val534Ile) rs779569366 0.00001
NM_000071.3(CBS):c.401G>C (p.Gly134Ala) rs766958673 0.00001
NM_000071.3(CBS):c.676G>C (p.Ala226Pro) rs763835246 0.00001
NM_000071.3(CBS):c.68C>T (p.Ser23Leu) rs775785018 0.00001
NM_000071.3(CBS):c.736+5G>A rs750518463 0.00001
NM_000071.3(CBS):c.982G>A (p.Asp328Asn) rs758447354 0.00001
NM_000071.3(CBS):c.1009A>C (p.Met337Leu) rs372822486
NM_000071.3(CBS):c.1114G>T (p.Val372Phe) rs775354680
NM_000071.3(CBS):c.112G>A (p.Ala38Thr) rs1064795253
NM_000071.3(CBS):c.1208C>T (p.Thr403Met) rs886042297
NM_000071.3(CBS):c.1213AAG[1] (p.Lys406del) rs780555741
NM_000071.3(CBS):c.1265C>T (p.Pro422Leu) rs28934892
NM_000071.3(CBS):c.1310T>C (p.Ile437Thr) rs2146341072
NM_000071.3(CBS):c.1513A>G (p.Met505Val) rs2146328317
NM_000071.3(CBS):c.1539C>G (p.His513Gln) rs187828882
NM_000071.3(CBS):c.1579C>T (p.Arg527Trp) rs1455031864
NM_000071.3(CBS):c.430G>C (p.Glu144Gln) rs121964966
NM_000071.3(CBS):c.452G>T (p.Gly151Val) rs2146388335
NM_000071.3(CBS):c.469G>A (p.Ala157Thr) rs199817801
NM_000071.3(CBS):c.488A>G (p.Tyr163Cys) rs2146387804
NM_000071.3(CBS):c.531G>C (p.Lys177Asn) rs1064795022
NM_000071.3(CBS):c.580A>G (p.Asn194Asp) rs370089875
NM_000071.3(CBS):c.636C>G (p.Asn212Lys) rs2298758
NM_000071.3(CBS):c.750G>A (p.Met250Ile) rs863223431
NM_000071.3(CBS):c.844C>T (p.Pro282Ser) rs1057518515
NM_000071.3(CBS):c.874_875delinsTT (p.Glu292Leu) rs1064795178

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