ClinVar Miner

List of variants in gene CBS reported as likely pathogenic by Invitae

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Total variants: 9
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HGVS dbSNP
NC_000021.9:g.(?_43060421)_(43062415_?)dup
NM_000071.2(CBS):c.1359-1G>C rs865990681
NM_000071.2(CBS):c.146C>T (p.Pro49Leu) rs148865119
NM_000071.2(CBS):c.430G>A (p.Glu144Lys) rs121964966
NM_000071.2(CBS):c.532-2A>G rs1568932835
NM_000071.2(CBS):c.667-14_667-7del rs764160782
NM_000071.2(CBS):c.700G>A (p.Asp234Asn) rs773734233
NM_000071.2(CBS):c.992C>A (p.Ala331Glu) rs777919630
NM_000071.3(CBS):c.208_209+8del

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