ClinVar Miner

List of variants reported as likely pathogenic for 3-methylcrotonyl-CoA carboxylase 1 deficiency by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_020166.5(MCCC1):c.872C>T (p.Ala291Val) rs201041864 0.00012
NM_020166.5(MCCC1):c.1302T>G (p.Ile434Met) rs376289130 0.00011
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg) rs119103212 0.00006
NM_020166.5(MCCC1):c.1331G>A (p.Arg444His) rs768785753 0.00004
NM_020166.5(MCCC1):c.196C>T (p.Arg66Cys) rs754460336 0.00004
NM_020166.5(MCCC1):c.1A>G (p.Met1Val) rs762463914 0.00004
NM_020166.5(MCCC1):c.137-2A>G rs727504006 0.00002
NM_020166.5(MCCC1):c.388G>A (p.Gly130Ser) rs202197951 0.00002
NM_020166.5(MCCC1):c.639+5G>T rs768630906 0.00002
NM_020166.5(MCCC1):c.640-2A>G rs772395858 0.00002
NM_020166.5(MCCC1):c.841C>T (p.Arg281Ter) rs185741664 0.00002
NM_020166.5(MCCC1):c.1261C>T (p.Arg421Trp) rs764744442 0.00001
NM_020166.5(MCCC1):c.694C>T (p.Arg232Trp) rs727504004 0.00001
NM_020166.5(MCCC1):c.1074del (p.Trp358fs) rs398124350
NM_020166.5(MCCC1):c.1126del (p.Thr376fs) rs2530166841
NM_020166.5(MCCC1):c.1129_1130del (p.Leu377fs) rs1714102462
NM_020166.5(MCCC1):c.1363del (p.Leu455fs) rs796051986
NM_020166.5(MCCC1):c.1394C>T (p.Thr465Ile) rs1000891879
NM_020166.5(MCCC1):c.1541dup (p.Leu515fs) rs1331457189
NM_020166.5(MCCC1):c.1679del (p.Asn560fs) rs1394547323
NM_020166.5(MCCC1):c.1731+1del rs2530057514
NM_020166.5(MCCC1):c.1732-1G>T rs763877330
NM_020166.5(MCCC1):c.1732-2A>C
NM_020166.5(MCCC1):c.280G>A (p.Glu94Lys) rs1717925328
NM_020166.5(MCCC1):c.321C>A (p.Tyr107Ter)
NM_020166.5(MCCC1):c.387C>A (p.Cys129Ter) rs761110034
NM_020166.5(MCCC1):c.639+5G>C
NM_020166.5(MCCC1):c.640-1G>A rs727504005
NM_020166.5(MCCC1):c.664C>T (p.Gln222Ter)
NM_020166.5(MCCC1):c.700_701del (p.Glu234fs) rs2108525892
NM_020166.5(MCCC1):c.761+1G>A rs1577328073
NM_020166.5(MCCC1):c.860AGG[1] (p.Glu288del)
NM_020166.5(MCCC1):c.90-1G>C rs1718608300

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