List of variants reported as pathogenic for 3-methylcrotonyl-CoA carboxylase 1 deficiency by Natera, Inc.

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg)	rs119103212	0.00006
NM_020166.5(MCCC1):c.1930G>T (p.Glu644Ter)	rs905321122	0.00003
NM_020166.5(MCCC1):c.1225C>T (p.Arg409Ter)	rs1484347924	0.00001
NM_020166.5(MCCC1):c.1263dup (p.Gln422fs)	rs762463137
NM_020166.5(MCCC1):c.1268-2A>G	rs2108474093
NM_020166.5(MCCC1):c.1679dup (p.Asn560fs)	rs1394547323

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