ClinVar Miner

List of variants in gene CBS reported by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 49
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HGVS dbSNP
NM_000071.2(CBS):c.*10C>A rs9978104
NM_000071.2(CBS):c.1005C>T (p.Ala335=) rs753731849
NM_000071.2(CBS):c.1006C>T (p.Arg336Cys) rs398123151
NM_000071.2(CBS):c.1058C>T (p.Thr353Met) rs121964972
NM_000071.2(CBS):c.1064C>T (p.Ala355Val) rs772384826
NM_000071.2(CBS):c.1072G>A (p.Val358Met) rs148589243
NM_000071.2(CBS):c.1080C>T (p.Ala360=) rs1801181
NM_000071.2(CBS):c.1105C>T (p.Arg369Cys) rs117687681
NM_000071.2(CBS):c.1145+7C>T rs201158177
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.1218del (p.Lys406fs) rs794727083
NM_000071.2(CBS):c.1224-2A>C rs375846341
NM_000071.2(CBS):c.1257G>A (p.Leu419=) rs138432416
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.1330G>A (p.Asp444Asn) rs28934891
NM_000071.2(CBS):c.1467+38A>G rs139077204
NM_000071.2(CBS):c.1496_1497TC[1] (p.Ser500fs) rs1555871188
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.1594G>A (p.Gly532Arg) rs748953468
NM_000071.2(CBS):c.28del (p.Val10fs) rs779250698
NM_000071.2(CBS):c.2T>C (p.Met1Thr) rs769766030
NM_000071.2(CBS):c.304A>C (p.Lys102Gln) rs34040148
NM_000071.2(CBS):c.317-46G>C rs75873792
NM_000071.2(CBS):c.325T>C (p.Cys109Arg) rs778220779
NM_000071.2(CBS):c.374G>A (p.Arg125Gln) rs781444670
NM_000071.2(CBS):c.394C>T (p.Arg132Cys) rs140002610
NM_000071.2(CBS):c.430G>A (p.Glu144Lys) rs121964966
NM_000071.2(CBS):c.435G>A (p.Pro145=) rs148782895
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.531+34G>T rs149674796
NM_000071.2(CBS):c.536_553del (p.Asp179_Leu184del) rs794727835
NM_000071.2(CBS):c.573G>A (p.Thr191=) rs73906420
NM_000071.2(CBS):c.670C>T (p.Arg224Cys) rs139456571
NM_000071.2(CBS):c.699C>T (p.Tyr233=) rs234706
NM_000071.2(CBS):c.785C>T (p.Thr262Met) rs149119723
NM_000071.2(CBS):c.828+23A>G rs73220911
NM_000071.2(CBS):c.833T>C (p.Ile278Thr) rs5742905
NM_000071.2(CBS):c.845_846insGAAGGGTCCATCCTCGCAGAGCCGGAGGAGCTGAACCAGACGGAGCAGACAACCTACGAGGTGGAACC (p.Glu283_Gly284insLysGlyProSerSerGlnSerArgArgSerTer) rs786200967
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.919G>A (p.Gly307Ser) rs121964962
NM_000071.2(CBS):c.939G>A (p.Thr313=) rs2228298
NM_000071.2(CBS):c.954+8G>A rs76292057
NM_000071.2(CBS):c.969G>A (p.Trp323Ter) rs863223432
NM_000071.2(CBS):c.992C>T (p.Ala331Val) rs777919630

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