ClinVar Miner

List of variants in gene CBS reported by Integrated Genetics/Laboratory Corporation of America

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP
NM_000071.2(CBS):c.1039G>A (p.Gly347Ser) rs771298943
NM_000071.2(CBS):c.1105C>T (p.Arg369Cys) rs117687681
NM_000071.2(CBS):c.1221delC (p.Trp408Glyfs) rs1361324844
NM_000071.2(CBS):c.1224-2A>C rs375846341
NM_000071.2(CBS):c.1316G>A (p.Arg439Gln) rs756467921
NM_000071.2(CBS):c.1330G>A (p.Asp444Asn) rs28934891
NM_000071.2(CBS):c.209+1G>A
NM_000071.2(CBS):c.325T>C (p.Cys109Arg) rs778220779
NM_000071.2(CBS):c.341C>T (p.Ala114Val) rs121964964
NM_000071.2(CBS):c.457G>A (p.Gly153Arg)
NM_000071.2(CBS):c.494G>A (p.Cys165Tyr) rs1347651454
NM_000071.2(CBS):c.526G>A (p.Glu176Lys)
NM_000071.2(CBS):c.572C>T (p.Thr191Met) rs121964973
NM_000071.2(CBS):c.636C>T (p.Asn212=) rs2298758
NM_000071.2(CBS):c.667-14_667-7del8 rs764160782
NM_000071.2(CBS):c.700G>A (p.Asp234Asn) rs773734233
NM_000071.2(CBS):c.770C>T (p.Thr257Met) rs758236584
NM_000071.2(CBS):c.833T>C (p.Ile278Thr) rs5742905
NM_000071.2(CBS):c.843_844ins68 (p.?)
NM_000071.2(CBS):c.919G>A (p.Gly307Ser) rs121964962
NM_000071.2(CBS):c.959T>C (p.Val320Ala) rs781567152

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