List of variants reported as likely pathogenic for 3-methylcrotonyl-CoA carboxylase deficiency by Natera, Inc.

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_020166.5(MCCC1):c.1A>G (p.Met1Val)	rs762463914	0.00004
NM_022132.5(MCCC2):c.518C>T (p.Ser173Leu)	rs752866557	0.00004
NM_020166.5(MCCC1):c.1315G>A (p.Val439Met)	rs398124352	0.00001
NM_020166.5(MCCC1):c.640-2A>G	rs772395858	0.00001
NM_020166.5(MCCC1):c.89+1G>C	rs771730236	0.00001
NM_022132.5(MCCC2):c.499T>C (p.Cys167Arg)	rs119103222	0.00001
NM_022132.5(MCCC2):c.1149+1G>A	rs2112460011
NM_022132.5(MCCC2):c.652G>A (p.Ala218Thr)	rs886043524

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