ClinVar Miner

List of variants reported as benign for Classic homocystinuria by Illumina Laboratory Services, Illumina

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000071.3(CBS):c.*565C>T rs706209 0.39516
NM_000071.3(CBS):c.*544T>C rs706208 0.39461
NM_000071.3(CBS):c.1080C>T (p.Ala360=) rs1801181 0.30942
NM_000071.3(CBS):c.699C>T (p.Tyr233=) rs234706 0.28613
NM_000071.3(CBS):c.*123C>G rs1051319 0.21968
NM_000071.3(CBS):c.*299G>A rs12613 0.09051
NM_000071.3(CBS):c.*540G>A rs111386779 0.01634
NM_000071.3(CBS):c.*81G>A rs115406358 0.01211
NM_000071.3(CBS):c.*566G>A rs111969522 0.00793
NM_000071.3(CBS):c.829-12C>T rs75616587 0.00698
NM_000071.3(CBS):c.573G>A (p.Thr191=) rs73906420 0.00615
NM_000071.3(CBS):c.531+11G>A rs186114513 0.00479
NM_000071.3(CBS):c.939G>A (p.Thr313=) rs2228298 0.00204
NM_000071.3(CBS):c.636C>T (p.Asn212=) rs2298758 0.00068
NM_000071.3(CBS):c.*10C>A rs9978104
NM_000071.3(CBS):c.*681A>G rs111413325

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