ClinVar Miner

List of variants in gene CBS reported by Fulgent Genetics,Fulgent Genetics

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Gene type:
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Total variants: 13
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HGVS dbSNP
NM_000071.2(CBS):c.1006C>T (p.Arg336Cys) rs398123151
NM_000071.2(CBS):c.1135C>T (p.Arg379Trp) rs769080151
NM_000071.2(CBS):c.1224-2A>C rs375846341
NM_000071.2(CBS):c.1330G>A (p.Asp444Asn) rs28934891
NM_000071.2(CBS):c.1353G>C (p.Glu451Asp) rs367962613
NM_000071.2(CBS):c.1411G>A (p.Gly471Arg) rs201098477
NM_000071.2(CBS):c.146C>T (p.Pro49Leu) rs148865119
NM_000071.2(CBS):c.1484C>T (p.Thr495Met) rs772344567
NM_000071.2(CBS):c.1594G>A (p.Gly532Arg) rs748953468
NM_000071.2(CBS):c.341C>T (p.Ala114Val) rs121964964
NM_000071.2(CBS):c.833T>C (p.Ile278Thr) rs5742905
NM_000071.2(CBS):c.887C>T (p.Thr296Met) rs562530775
NM_000071.2(CBS):c.919G>A (p.Gly307Ser) rs121964962

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