ClinVar Miner

List of variants in gene CBS reported as pathogenic for Homocystinuria

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Total variants: 13
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HGVS dbSNP
NM_000071.2(CBS):c.1039G>A (p.Gly347Ser) rs771298943
NM_000071.2(CBS):c.1224-2A>C rs375846341
NM_000071.2(CBS):c.1330G>A (p.Asp444Asn) rs28934891
NM_000071.2(CBS):c.209+1G>A rs751464024
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.494G>A (p.Cys165Tyr) rs1347651454
NM_000071.2(CBS):c.526G>A (p.Glu176Lys) rs762065361
NM_000071.2(CBS):c.572C>T (p.Thr191Met) rs121964973
NM_000071.2(CBS):c.700G>A (p.Asp234Asn) rs773734233
NM_000071.2(CBS):c.770C>T (p.Thr257Met) rs758236584
NM_000071.2(CBS):c.833T>C (p.Ile278Thr) rs5742905
NM_000071.2(CBS):c.919G>A (p.Gly307Ser) rs121964962

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