ClinVar Miner

List of variants reported as likely pathogenic for Classic homocystinuria by Revvity Omics, Revvity

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000071.3(CBS):c.209+1G>C	rs751464024
NM_000071.3(CBS):c.284T>C (p.Ile95Thr)	rs1347662650
NM_000071.3(CBS):c.536_553del (p.Asp179_Leu184del)	rs794727835

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