ClinVar Miner

List of variants in gene CBS reported as likely pathogenic for not provided

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Gene type:
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Total variants: 9
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HGVS dbSNP
NM_000071.2(CBS):c.1051G>C (p.Gly351Arg) rs774926464
NM_000071.2(CBS):c.1087delG (p.Glu363Serfs) rs1064794540
NM_000071.2(CBS):c.1109G>A (p.Cys370Tyr) rs757920190
NM_000071.2(CBS):c.1223G>A (p.Trp408Ter) rs863223433
NM_000071.2(CBS):c.146C>T (p.Pro49Leu) rs148865119
NM_000071.2(CBS):c.340G>A (p.Ala114Thr) rs377708532
NM_000071.2(CBS):c.536_553del18 (p.Asp179_Leu184del) rs794727835
NM_000071.2(CBS):c.572C>A (p.Thr191Lys) rs121964973
NM_000071.2(CBS):c.816T>A (p.Cys272Ter) rs528689432

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