ClinVar Miner

List of variants in gene MCCC1 reported as uncertain significance for Methylcrotonyl-CoA carboxylase deficiency

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Total variants: 35
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HGVS dbSNP
NM_001363880.1(MCCC1):c.-291C>T rs886058210
NM_001363880.1(MCCC1):c.-292C>A rs543130921
NM_001363880.1(MCCC1):c.-322C>T rs529095789
NM_020166.5(MCCC1):c.1048A>G (p.Ile350Val)
NM_020166.5(MCCC1):c.1259T>C (p.Val420Ala)
NM_020166.5(MCCC1):c.1261C>T (p.Arg421Trp) rs764744442
NM_020166.5(MCCC1):c.1282G>A (p.Val428Met)
NM_020166.5(MCCC1):c.1303G>A (p.Ala435Thr) rs142507365
NM_020166.5(MCCC1):c.1331G>A (p.Arg444His) rs768785753
NM_020166.5(MCCC1):c.1337C>T (p.Ala446Val) rs144182725
NM_020166.5(MCCC1):c.1367G>A (p.Arg456His)
NM_020166.5(MCCC1):c.1427A>T (p.His476Leu)
NM_020166.5(MCCC1):c.1475A>G (p.His492Arg)
NM_020166.5(MCCC1):c.1561G>A (p.Ala521Thr) rs149957640
NM_020166.5(MCCC1):c.1644G>A (p.Ser548=)
NM_020166.5(MCCC1):c.1709A>G (p.His570Arg)
NM_020166.5(MCCC1):c.1715G>C (p.Gly572Ala)
NM_020166.5(MCCC1):c.1768T>C (p.Tyr590His)
NM_020166.5(MCCC1):c.1842G>A (p.Leu614=)
NM_020166.5(MCCC1):c.1942G>A (p.Gly648Ser) rs149017703
NM_020166.5(MCCC1):c.2050-6_2050-5del rs780558586
NM_020166.5(MCCC1):c.2089G>A (p.Val697Met)
NM_020166.5(MCCC1):c.208A>G (p.Lys70Glu)
NM_020166.5(MCCC1):c.314A>G (p.Gln105Arg)
NM_020166.5(MCCC1):c.362C>T (p.Ala121Val)
NM_020166.5(MCCC1):c.373A>G (p.Ile125Val)
NM_020166.5(MCCC1):c.387C>T (p.Cys129=)
NM_020166.5(MCCC1):c.492-4A>G
NM_020166.5(MCCC1):c.623G>A (p.Arg208Gln) rs780352053
NM_020166.5(MCCC1):c.729T>C (p.Ala243=) rs886058208
NM_020166.5(MCCC1):c.863A>G (p.Glu288Gly) rs746500530
NM_020166.5(MCCC1):c.873G>A (p.Ala291=) rs138794621
NM_020166.5(MCCC1):c.918A>C (p.Ala306=)
NM_020166.5(MCCC1):c.984A>T (p.Lys328Asn) rs142513139
NM_020166.5(MCCC1):c.994T>G (p.Cys332Gly) rs886058207

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