List of variants reported as pathogenic for 3-methylcrotonyl-CoA carboxylase 1 deficiency by Revvity Omics, Revvity

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_020166.5(MCCC1):c.1155A>C (p.Arg385Ser)	rs119103213	0.00008
NM_020166.5(MCCC1):c.841C>T (p.Arg281Ter)	rs185741664	0.00002
NM_020166.5(MCCC1):c.1254_1255del (p.Gly419fs)	rs2108478897
NM_020166.5(MCCC1):c.227_228del (p.Val76fs)	rs1718431677

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