ClinVar Miner

List of variants reported as uncertain significance for 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

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Total variants: 111
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HGVS dbSNP
NC_000011.9:g.(?_72083949)_(72084078_?)del
NM_001258392.3(CLPB):c.1003G>A (p.Glu335Lys) rs765777645
NM_001258392.3(CLPB):c.1018G>A (p.Asp340Asn)
NM_001258392.3(CLPB):c.1123-3C>T
NM_001258392.3(CLPB):c.1143G>A (p.Met381Ile) rs786205137
NM_001258392.3(CLPB):c.1147G>A (p.Glu383Lys)
NM_001258392.3(CLPB):c.1167+6T>C
NM_001258392.3(CLPB):c.1214A>T (p.Glu405Val)
NM_001258392.3(CLPB):c.1292C>T (p.Pro431Leu) rs746582120
NM_001258392.3(CLPB):c.130G>A (p.Glu44Lys)
NM_001258392.3(CLPB):c.1361T>C (p.Ile454Thr)
NM_001258392.3(CLPB):c.1375G>A (p.Ala459Thr) rs372344202
NM_001258392.3(CLPB):c.1408G>A (p.Asp470Asn) rs778269139
NM_001258392.3(CLPB):c.1409A>G (p.Asp470Gly)
NM_001258392.3(CLPB):c.142C>G (p.Leu48Val)
NM_001258392.3(CLPB):c.1453G>A (p.Glu485Lys)
NM_001258392.3(CLPB):c.1462C>T (p.Arg488Cys) rs369380599
NM_001258392.3(CLPB):c.1463G>A (p.Arg488His)
NM_001258392.3(CLPB):c.1468C>T (p.Arg490Cys)
NM_001258392.3(CLPB):c.1482C>G (p.Asn494Lys) rs779812366
NM_001258392.3(CLPB):c.1485G>A (p.Leu495=)
NM_001258392.3(CLPB):c.1514C>T (p.Thr505Ile)
NM_001258392.3(CLPB):c.1530C>G (p.Phe510Leu)
NM_001258392.3(CLPB):c.1546C>T (p.Arg516Cys) rs748289105
NM_001258392.3(CLPB):c.1552A>G (p.Ile518Val)
NM_001258392.3(CLPB):c.1570C>T (p.Arg524Trp) rs200299650
NM_001258392.3(CLPB):c.1579G>A (p.Glu527Lys) rs1590753263
NM_001258392.3(CLPB):c.1591C>T (p.Arg531Trp)
NM_001258392.3(CLPB):c.1592G>A (p.Arg531Gln) rs1590753221
NM_001258392.3(CLPB):c.1606G>A (p.Val536Ile)
NM_001258392.3(CLPB):c.1610A>C (p.Tyr537Ser)
NM_001258392.3(CLPB):c.1610A>G (p.Tyr537Cys) rs150857620
NM_001258392.3(CLPB):c.1631C>G (p.Ser544Trp)
NM_001258392.3(CLPB):c.1666T>A (p.Phe556Ile)
NM_001258392.3(CLPB):c.1672G>A (p.Ala558Thr)
NM_001258392.3(CLPB):c.1680+6A>C
NM_001258392.3(CLPB):c.1718G>A (p.Arg573His)
NM_001258392.3(CLPB):c.1744G>A (p.Gly582Ser)
NM_001258392.3(CLPB):c.1777A>C (p.Lys593Gln)
NM_001258392.3(CLPB):c.1786-3C>T rs372126133
NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys) rs150343959
NM_001258392.3(CLPB):c.1795C>T (p.Arg599Cys)
NM_001258392.3(CLPB):c.1803G>A (p.Val601=)
NM_001258392.3(CLPB):c.182C>T (p.Ala61Val)
NM_001258392.3(CLPB):c.1840C>G (p.Pro614Ala)
NM_001258392.3(CLPB):c.1844G>T (p.Gly615Val)
NM_001258392.3(CLPB):c.1859G>A (p.Arg620His) rs137882645
NM_001258392.3(CLPB):c.1859G>T (p.Arg620Leu) rs137882645
NM_001258392.3(CLPB):c.1870G>C (p.Glu624Gln)
NM_001258392.3(CLPB):c.189C>G (p.Phe63Leu)
NM_001258392.3(CLPB):c.1937C>G (p.Pro646Arg)
NM_001258392.3(CLPB):c.1958T>C (p.Ile653Thr) rs144777839
NM_001258392.3(CLPB):c.1969A>T (p.Ser657Cys)
NM_001258392.3(CLPB):c.1979G>A (p.Arg660His)
NM_001258392.3(CLPB):c.1994G>A (p.Arg665Gln)
NM_001258392.3(CLPB):c.2021G>T (p.Cys674Phe)
NM_001258392.3(CLPB):c.2033A>G (p.Ter678Trp)
NM_001258392.3(CLPB):c.203C>A (p.Ala68Glu)
NM_001258392.3(CLPB):c.214G>A (p.Gly72Arg) rs758376345
NM_001258392.3(CLPB):c.229C>A (p.Arg77Ser)
NM_001258392.3(CLPB):c.247C>T (p.Leu83Phe) rs1590947700
NM_001258392.3(CLPB):c.254C>T (p.Ala85Val)
NM_001258392.3(CLPB):c.259A>T (p.Thr87Ser)
NM_001258392.3(CLPB):c.260C>T (p.Thr87Ile) rs1424542665
NM_001258392.3(CLPB):c.299G>C (p.Gly100Ala)
NM_001258392.3(CLPB):c.2T>C (p.Met1Thr)
NM_001258392.3(CLPB):c.325A>G (p.Ser109Gly)
NM_001258392.3(CLPB):c.347G>C (p.Cys116Ser) rs549191970
NM_001258392.3(CLPB):c.356C>G (p.Ala119Gly)
NM_001258392.3(CLPB):c.359C>G (p.Ala120Gly) rs1565107812
NM_001258392.3(CLPB):c.370G>T (p.Val124Phe) rs139361195
NM_001258392.3(CLPB):c.384C>A (p.Ser128Arg)
NM_001258392.3(CLPB):c.38C>T (p.Ala13Val)
NM_001258392.3(CLPB):c.441G>C (p.Met147Ile) rs146895312
NM_001258392.3(CLPB):c.546G>A (p.Val182=)
NM_001258392.3(CLPB):c.56G>A (p.Arg19Gln)
NM_001258392.3(CLPB):c.638C>G (p.Ser213Cys)
NM_001258392.3(CLPB):c.646+6T>C rs374982363
NM_001258392.3(CLPB):c.646+7273G>C
NM_001258392.3(CLPB):c.646+7290C>T
NM_001258392.3(CLPB):c.646+7291G>A rs770932848
NM_001258392.3(CLPB):c.646+7295C>A
NM_001258392.3(CLPB):c.646+7335T>C rs746357833
NM_001258392.3(CLPB):c.646+7355C>T
NM_001258392.3(CLPB):c.680G>T (p.Arg227Met) rs1284671735
NM_001258392.3(CLPB):c.694G>A (p.Ala232Thr)
NM_001258392.3(CLPB):c.725A>G (p.Tyr242Cys) rs777313457
NM_001258392.3(CLPB):c.730G>C (p.Val244Leu)
NM_001258392.3(CLPB):c.748C>G (p.Arg250Gly) rs146762466
NM_001258392.3(CLPB):c.748C>T (p.Arg250Cys)
NM_001258392.3(CLPB):c.751A>G (p.Thr251Ala)
NM_001258392.3(CLPB):c.757A>G (p.Lys253Glu)
NM_001258392.3(CLPB):c.758A>G (p.Lys253Arg)
NM_001258392.3(CLPB):c.764T>C (p.Leu255Pro) rs1555098495
NM_001258392.3(CLPB):c.776G>A (p.Gly259Glu)
NM_001258392.3(CLPB):c.806G>T (p.Gly269Val)
NM_001258392.3(CLPB):c.812C>G (p.Thr271Arg)
NM_001258392.3(CLPB):c.819G>C (p.Leu273Phe) rs368150943
NM_001258392.3(CLPB):c.844A>G (p.Met282Val) rs773028492
NM_001258392.3(CLPB):c.889C>T (p.Arg297Trp) rs148534573
NM_001258392.3(CLPB):c.896G>A (p.Arg299His)
NM_001258392.3(CLPB):c.896G>C (p.Arg299Pro)
NM_001258392.3(CLPB):c.908A>G (p.Glu303Gly) rs144712077
NM_001258392.3(CLPB):c.910C>T (p.Arg304Trp)
NM_001258392.3(CLPB):c.914G>A (p.Arg305His)
NM_001258392.3(CLPB):c.916C>T (p.Arg306Cys)
NM_001258392.3(CLPB):c.935G>A (p.Arg312Gln)
NM_001258392.3(CLPB):c.949A>G (p.Ile317Val) rs1590786067
NM_001258392.3(CLPB):c.983G>A (p.Gly328Asp) rs1565433670
NM_001258392.3(CLPB):c.989C>G (p.Ala330Gly)
NM_001258392.3(CLPB):c.989C>T (p.Ala330Val) rs144942416

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