ClinVar Miner

List of variants reported as uncertain significance for Classic homocystinuria by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NC_000021.8:g.(?_44473450)_(44492323_?)dup
NC_000021.8:g.(?_44473970)_(44492323_?)dup
NC_000021.9:g.(?_43053340)_(43056907_?)del
NC_000021.9:g.(?_43053340)_(43076866_?)dup
NM_000071.3(CBS):c.1080_1081delinsTA (p.Ala361Thr) rs1555873407
NM_000071.3(CBS):c.393G>C (p.Glu131Asp) rs1555875351

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