ClinVar Miner

List of variants reported as pathogenic for 3-methylcrotonyl-CoA carboxylase deficiency by Invitae

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
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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.1526del (p.Cys509fs) rs727504002
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.343C>T (p.Gln115Ter)
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.980C>G (p.Ser327Ter) rs750484977
NM_020166.5(MCCC1):c.987_988del (p.His329fs) rs1553856095
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260
NM_022132.5(MCCC2):c.1065A>T (p.Leu355Phe) rs757052602
NM_022132.5(MCCC2):c.295G>C (p.Glu99Gln) rs119103219
NM_022132.5(MCCC2):c.517dup (p.Ser173fs) rs587776533
NM_022132.5(MCCC2):c.581del (p.Thr194fs)
NM_022132.5(MCCC2):c.688A>G (p.Asn230Asp)
NM_022132.5(MCCC2):c.735dup (p.Val247fs) rs770769655
NM_022132.5(MCCC2):c.891_892del (p.Lys298fs)
NM_022132.5(MCCC2):c.987dup (p.Asp330Ter) rs1554137532
Single allele

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