ClinVar Miner

List of variants in gene LOC129938008, MCCC1 studied for 3-methylcrotonyl-CoA carboxylase deficiency

Included ClinVar conditions (3):
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Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_020166.4(MCCC1):c.-100G>C rs937652 0.60097
NM_020166.5(MCCC1):c.-24A>G rs11540930 0.00749
NM_020166.5(MCCC1):c.-25C>A rs149741951 0.00453
NM_020166.5(MCCC1):c.-23C>T rs374636986 0.00051
NM_020166.5(MCCC1):c.1A>G (p.Met1Val) rs762463914 0.00004
NM_020166.5(MCCC1):c.6G>A (p.Ala2=) rs768348047 0.00001
NM_020166.5(MCCC1):c.9G>A (p.Ala3=) rs1191355416 0.00001
NM_020166.4(MCCC1):c.-101C>T rs886058210
NM_020166.4(MCCC1):c.-102C>A rs543130921
NM_020166.5(MCCC1):c.12C>T (p.Ala4=)
NM_020166.5(MCCC1):c.17C>T (p.Ala6Val)
NM_020166.5(MCCC1):c.2T>C (p.Met1Thr) rs776254500
NM_020166.5(MCCC1):c.5C>A (p.Ala2Glu)

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