ClinVar Miner

List of variants in gene CBS reported as likely benign for Homocystinuria due to CBS deficiency

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Gene type:
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Total variants: 41
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HGVS dbSNP
NM_000071.2(CBS):c.1065G>A (p.Ala355=) rs748552493
NM_000071.2(CBS):c.1125C>T (p.Pro375=) rs146180894
NM_000071.2(CBS):c.1146-7C>T rs376749931
NM_000071.2(CBS):c.1161C>T (p.Ser387=) rs149280976
NM_000071.2(CBS):c.1209G>A (p.Thr403=) rs199967147
NM_000071.2(CBS):c.1224-5C>T rs370071493
NM_000071.2(CBS):c.1260A>G (p.Ser420=) rs1060503997
NM_000071.2(CBS):c.1272C>T (p.Thr424=) rs141717913
NM_000071.2(CBS):c.1287C>T (p.Ile429=) rs770442169
NM_000071.2(CBS):c.1316G>A (p.Arg439Gln) rs756467921
NM_000071.2(CBS):c.1332C>T (p.Asp444=) rs1060503998
NM_000071.2(CBS):c.1338G>A (p.Ala446=) rs373962057
NM_000071.2(CBS):c.133C>T (p.Arg45Trp) rs201372812
NM_000071.2(CBS):c.1341C>T (p.Pro447=) rs371493662
NM_000071.2(CBS):c.138C>T (p.Pro46=) rs532584017
NM_000071.2(CBS):c.1413G>C (p.Gly471=) rs777859460
NM_000071.2(CBS):c.1425G>A (p.Pro475=) rs147885808
NM_000071.2(CBS):c.1479G>A (p.Thr493=) rs143225442
NM_000071.2(CBS):c.147G>A (p.Pro49=) rs771719483
NM_000071.2(CBS):c.1485G>A (p.Thr495=) rs369903148
NM_000071.2(CBS):c.1575T>C (p.Ser525=) rs150037641
NM_000071.2(CBS):c.1593C>T (p.Phe531=) rs768230991
NM_000071.2(CBS):c.1643G>A (p.Arg548Gln) rs150828989
NM_000071.2(CBS):c.18C>T (p.Pro6=) rs777370660
NM_000071.2(CBS):c.215A>T (p.Lys72Ile) rs192232907
NM_000071.2(CBS):c.384G>A (p.Glu128=) rs374593242
NM_000071.2(CBS):c.429C>T (p.Ile143=) rs370167302
NM_000071.2(CBS):c.435G>A (p.Pro145=) rs148782895
NM_000071.2(CBS):c.474G>A (p.Ala158=) rs189362155
NM_000071.2(CBS):c.501C>T (p.Ile167=) rs754246295
NM_000071.2(CBS):c.52C>T (p.Arg18Cys) rs201827340
NM_000071.2(CBS):c.531+11G>A rs186114513
NM_000071.2(CBS):c.609C>T (p.His203=) rs142313595
NM_000071.2(CBS):c.612G>C (p.Val204=) rs539670390
NM_000071.2(CBS):c.625C>A (p.Arg209=) rs137939628
NM_000071.2(CBS):c.675C>T (p.Asn225=) rs145303290
NM_000071.2(CBS):c.708C>T (p.Thr236=) rs748495689
NM_000071.2(CBS):c.72G>A (p.Ala24=) rs145466242
NM_000071.2(CBS):c.737-9G>A rs781068454
NM_000071.2(CBS):c.832_833ins68 (p.?)
NM_000071.2(CBS):c.894G>A (p.Gln298=) rs370514077

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