ClinVar Miner

List of variants reported as likely pathogenic for Homocystinuria

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Total variants: 4
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HGVS dbSNP
NM_000071.2(CBS):c.1221del (p.Trp408fs) rs1361324844
NM_000071.2(CBS):c.457G>A (p.Gly153Arg)
NM_000071.2(CBS):c.667-14_667-7del rs764160782
NM_000071.2(CBS):c.959T>C (p.Val320Ala) rs781567152

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