ClinVar Miner

List of variants in gene CBS reported as pathogenic by Invitae

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Total variants: 31
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HGVS dbSNP
NC_000021.8:g.(?_44478235)_(44485825_?)del
NM_000071.2(CBS):c.1006C>T (p.Arg336Cys) rs398123151
NM_000071.2(CBS):c.1007G>A (p.Arg336His) rs760417941
NM_000071.2(CBS):c.1039G>A (p.Gly347Ser) rs771298943
NM_000071.2(CBS):c.1058C>T (p.Thr353Met) rs121964972
NM_000071.2(CBS):c.1111G>A (p.Val371Met) rs372010465
NM_000071.2(CBS):c.1126G>A (p.Asp376Asn)
NM_000071.2(CBS):c.1221del (p.Trp408fs) rs1361324844
NM_000071.2(CBS):c.1223+1G>T
NM_000071.2(CBS):c.1224-2A>C rs375846341
NM_000071.2(CBS):c.1330G>A (p.Asp444Asn) rs28934891
NM_000071.2(CBS):c.19dup (p.Gln7fs) rs748695461
NM_000071.2(CBS):c.302T>C (p.Leu101Pro) rs786204757
NM_000071.2(CBS):c.325T>C (p.Cys109Arg) rs778220779
NM_000071.2(CBS):c.341C>T (p.Ala114Val) rs121964964
NM_000071.2(CBS):c.361C>T (p.Arg121Cys) rs775992753
NM_000071.2(CBS):c.374G>A (p.Arg125Gln) rs781444670
NM_000071.2(CBS):c.452-154_623dup rs1568932440
NM_000071.2(CBS):c.494G>A (p.Cys165Tyr) rs1347651454
NM_000071.2(CBS):c.536_553del (p.Asp179_Leu184del) rs794727835
NM_000071.2(CBS):c.572C>T (p.Thr191Met) rs121964973
NM_000071.2(CBS):c.689del (p.Leu230fs) rs775351239
NM_000071.2(CBS):c.737-1G>C rs757428597
NM_000071.2(CBS):c.738delG rs766453711
NM_000071.2(CBS):c.770C>T (p.Thr257Met) rs758236584
NM_000071.2(CBS):c.785C>T (p.Thr262Met) rs149119723
NM_000071.2(CBS):c.797G>A (p.Arg266Lys) rs121964969
NM_000071.2(CBS):c.828+1G>A rs763290176
NM_000071.2(CBS):c.833T>C (p.Ile278Thr) rs5742905
NM_000071.2(CBS):c.904G>A (p.Glu302Lys) rs779270933
NM_000071.2(CBS):c.919G>A (p.Gly307Ser) rs121964962

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