ClinVar Miner

List of variants in gene CBS reported as likely benign by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000071.3(CBS):c.*383C>T rs73372352 0.01854
NM_000071.3(CBS):c.304A>C (p.Lys102Gln) rs34040148 0.01138
NM_000071.3(CBS):c.1145+7C>T rs201158177 0.00620
NM_000071.3(CBS):c.*34G>A rs374464201 0.00214
NM_000071.3(CBS):c.954+8G>A rs76292057 0.00188
NM_000071.2(CBS):c.-160C>T rs112271970 0.00185
NM_000071.3(CBS):c.1359-14C>T rs115185587 0.00137
NM_000071.3(CBS):c.1643G>A (p.Arg548Gln) rs150828989 0.00105
NM_000071.3(CBS):c.52C>T (p.Arg18Cys) rs201827340 0.00086
NM_000071.3(CBS):c.1494G>A (p.Arg498=) rs778800147 0.00005
NM_000071.3(CBS):c.1358+15C>G rs186497436

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