ClinVar Miner

List of variants in gene CBS reported as benign for Homocystinuria

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Gene type:
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Total variants: 7
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HGVS dbSNP
NM_000071.2(CBS):c.*103_*107delCTGGC rs71872941
NM_000071.2(CBS):c.*10C>A rs9978104
NM_000071.2(CBS):c.*123C>G rs1051319
NM_000071.2(CBS):c.*544T>C rs706208
NM_000071.2(CBS):c.*565C>T rs706209
NM_000071.2(CBS):c.1080C>T (p.Ala360=) rs1801181
NM_000071.2(CBS):c.699C>T (p.Tyr233=) rs234706

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