ClinVar Miner

List of variants studied for Methylcrotonyl-CoA carboxylase deficiency by Illumina Laboratory Services, Illumina

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_020166.4(MCCC1):c.-100G>C rs937652 0.60097
NM_020166.5(MCCC1):c.623G>A (p.Arg208Gln) rs780352053 0.00004
NM_022132.5(MCCC2):c.*719del rs886060742 0.00003
NM_020166.4(MCCC1):c.-101C>T rs886058210
NM_020166.4(MCCC1):c.-102C>A rs543130921
NM_020166.4(MCCC1):c.-132C>T rs529095789
NM_020166.5(MCCC1):c.2050-6_2050-5del rs780558586
NM_020166.5(MCCC1):c.729T>C (p.Ala243=) rs886058208
NM_020166.5(MCCC1):c.994T>G (p.Cys332Gly) rs886058207

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