ClinVar Miner

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

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Total variants: 9
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HGVS dbSNP
NM_001363880.1(MCCC1):c.-290G>C rs937652
NM_001363880.1(MCCC1):c.-291C>T rs886058210
NM_001363880.1(MCCC1):c.-292C>A rs543130921
NM_001363880.1(MCCC1):c.-322C>T rs529095789
NM_020166.5(MCCC1):c.2050-6_2050-5del rs780558586
NM_020166.5(MCCC1):c.623G>A (p.Arg208Gln) rs780352053
NM_020166.5(MCCC1):c.729T>C (p.Ala243=) rs886058208
NM_020166.5(MCCC1):c.994T>G (p.Cys332Gly) rs886058207
NM_022132.5(MCCC2):c.*719del rs886060742

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