ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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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

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