ClinVar Miner

List of variants in gene CBS reported as pathogenic by Counsyl

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Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_000071.2(CBS):c.1006C>T (p.Arg336Cys) rs398123151
NM_000071.2(CBS):c.1224-2A>C rs375846341
NM_000071.2(CBS):c.19dupC (p.Gln7Profs) rs748695461
NM_000071.2(CBS):c.572C>T (p.Thr191Met) rs121964973
NM_000071.2(CBS):c.828+1G>A rs763290176
NM_000071.2(CBS):c.833T>C (p.Ile278Thr) rs5742905
NM_000071.2(CBS):c.919G>A (p.Gly307Ser) rs121964962
NM_000071.2(CBS):c.954+1G>A rs1057517373
NM_000071.2(CBS):c.969G>A (p.Trp323Ter) rs863223432

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