ClinVar Miner

List of variants in gene CBS reported as benign for amino acid or protein metabolism disease with epilepsy

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP
NM_000071.2(CBS):c.*123C>G rs1051319
NM_000071.2(CBS):c.*299G>A rs12613
NM_000071.2(CBS):c.*544T>C rs706208
NM_000071.2(CBS):c.*565C>T rs706209
NM_000071.2(CBS):c.*566G>A rs111969522
NM_000071.2(CBS):c.*81G>A rs115406358
NM_000071.2(CBS):c.1059G>A (p.Thr353=) rs61735859
NM_000071.2(CBS):c.1145+7C>T rs201158177
NM_000071.2(CBS):c.1257G>A (p.Leu419=) rs138432416
NM_000071.2(CBS):c.1316G>A (p.Arg439Gln) rs756467921
NM_000071.2(CBS):c.1632C>T (p.Ala544=) rs566810122
NM_000071.2(CBS):c.1643G>A (p.Arg548Gln) rs150828989
NM_000071.2(CBS):c.33G>A (p.Gly11=) rs567323664
NM_000071.2(CBS):c.52C>T (p.Arg18Cys) rs201827340
NM_000071.2(CBS):c.600G>A (p.Pro200=) rs181472622
NM_000071.2(CBS):c.636C>T (p.Asn212=) rs2298758
NM_000071.2(CBS):c.829-12C>T rs75616587
NM_000071.2(CBS):c.832_833insCTGGGGTGGATCACCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA
NM_000071.2(CBS):c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA
NM_000071.2(CBS):c.833_834insCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCAT
NM_000071.2(CBS):c.939G>A (p.Thr313=) rs2228298
NM_000071.2(CBS):c.954+8G>A rs76292057
NM_000071.3(CBS):c.*10C>A rs9978104
NM_000071.3(CBS):c.*540G>A rs111386779
NM_000071.3(CBS):c.*681A>G
NM_000071.3(CBS):c.1080C>T (p.Ala360=) rs1801181
NM_000071.3(CBS):c.304A>C (p.Lys102Gln) rs34040148
NM_000071.3(CBS):c.531+11G>A rs186114513
NM_000071.3(CBS):c.573G>A (p.Thr191=) rs73906420
NM_000071.3(CBS):c.699C>T (p.Tyr233=) rs234706

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