List of variants reported as likely benign 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: 11

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HGVS	dbSNP	gnomAD frequency
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn)	rs140806722	0.00262
NM_022132.5(MCCC2):c.1217-7C>G	rs148369119	0.00171
NM_020166.5(MCCC1):c.254A>C (p.Asn85Thr)	rs148616219	0.00058
NM_020166.5(MCCC1):c.2034C>T (p.Ile678=)	rs150305281	0.00037
NM_020166.5(MCCC1):c.686A>G (p.Glu229Gly)	rs142629318	0.00008
NM_020166.5(MCCC1):c.1486T>C (p.Leu496=)	rs768167603	0.00006
NM_020166.5(MCCC1):c.1281C>T (p.Ser427=)	rs763713221	0.00001
NM_022132.5(MCCC2):c.1014C>T (p.Ile338=)	rs760703487	0.00001
NM_022132.5(MCCC2):c.330C>T (p.Asp110=)	rs201872484	0.00001
NM_020166.5(MCCC1):c.231G>A (p.Ala77=)	rs144230304
NM_020166.5(MCCC1):c.81G>A (p.Leu27=)	rs1439662567

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