ClinVar Miner

List of variants studied for Classic homocystinuria by Genome Diagnostics Laboratory, Amsterdam University Medical Center

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000071.3(CBS):c.1080C>T (p.Ala360=) rs1801181 0.30942
NM_000071.3(CBS):c.699C>T (p.Tyr233=) rs234706 0.28613
NM_000071.3(CBS):c.531+11G>A rs186114513 0.00479
NM_000071.2(CBS):c.832_833ins68 (p.?)

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