ClinVar Miner

List of variants in gene MCCC1 reported as pathogenic for 3-methylcrotonyl-CoA carboxylase deficiency

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 32
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HGVS dbSNP
NC_000003.11:g.(?_182769927)_(182770048_?)del
NM_020166.3(MCCC1):c.640_641delGG (p.Gly214Asnfs) rs886058209
NM_020166.5(MCCC1):c.1074del (p.Trp358fs) rs398124350
NM_020166.5(MCCC1):c.1114C>T (p.Gln372Ter) rs544349961
NM_020166.5(MCCC1):c.1155A>C (p.Arg385Ser) rs119103213
NM_020166.5(MCCC1):c.1191_1192TG[1] (p.Val398fs) rs796051985
NM_020166.5(MCCC1):c.1210dup (p.His404fs)
NM_020166.5(MCCC1):c.1225C>T (p.Arg409Ter) rs1484347924
NM_020166.5(MCCC1):c.1257_1263del (p.Val420fs) rs1560224024
NM_020166.5(MCCC1):c.1263dup (p.Gln422fs) rs762463137
NM_020166.5(MCCC1):c.1310T>C (p.Leu437Pro) rs119103215
NM_020166.5(MCCC1):c.1380T>G (p.Ile460Met) rs119103218
NM_020166.5(MCCC1):c.1526del (p.Cys509fs) rs727504002
NM_020166.5(MCCC1):c.1594G>C (p.Asp532His) rs119103214
NM_020166.5(MCCC1):c.1604C>T (p.Ser535Phe) rs119103216
NM_020166.5(MCCC1):c.1679dup (p.Asn560fs) rs1394547323
NM_020166.5(MCCC1):c.169_170AG[1] (p.Gly58fs) rs1311374961
NM_020166.5(MCCC1):c.1819_1832del (p.Ser607fs) rs1553850609
NM_020166.5(MCCC1):c.1930G>T (p.Glu644Ter) rs905321122
NM_020166.5(MCCC1):c.1973_1977+28del rs776641008
NM_020166.5(MCCC1):c.2079del (p.Thr693_Val694insTer) rs119103217
NM_020166.5(MCCC1):c.343C>T (p.Gln115Ter) rs920162850
NM_020166.5(MCCC1):c.558del (p.Gln186fs)
NM_020166.5(MCCC1):c.639+2T>A rs199914879
NM_020166.5(MCCC1):c.673C>T (p.Gln225Ter)
NM_020166.5(MCCC1):c.704del (p.Ala235fs)
NM_020166.5(MCCC1):c.739_742delinsATAGCATAGC (p.Glu247_Lys248delinsIleAlaTer) rs1560256569
NM_020166.5(MCCC1):c.841C>T (p.Arg281Ter) rs185741664
NM_020166.5(MCCC1):c.945T>A (p.Tyr315Ter) rs150862707
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg) rs119103212
NM_020166.5(MCCC1):c.980C>G (p.Ser327Ter) rs750484977
NM_020166.5(MCCC1):c.987_988del (p.His329fs) rs1553856095

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