List of variants in gene MCCC2 reported as pathogenic for 3-methylcrotonyl-CoA carboxylase deficiency

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Gene type:		Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 18

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HGVS	dbSNP
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met)	rs150591260
NM_022132.5(MCCC2):c.1065A>T (p.Leu355Phe)	rs757052602
NM_022132.5(MCCC2):c.1309A>G (p.Ile437Val)	rs119103224
NM_022132.5(MCCC2):c.1574+1G>A	rs730880265
NM_022132.5(MCCC2):c.295G>C (p.Glu99Gln)	rs119103219
NM_022132.5(MCCC2):c.464G>A (p.Arg155Gln)	rs119103220
NM_022132.5(MCCC2):c.499T>C (p.Cys167Arg)	rs119103222
NM_022132.5(MCCC2):c.517dup (p.Ser173fs)	rs587776533
NM_022132.5(MCCC2):c.569A>G (p.His190Arg)	rs119103225
NM_022132.5(MCCC2):c.581del (p.Thr194fs)
NM_022132.5(MCCC2):c.688A>G (p.Asn230Asp)	rs766753795
NM_022132.5(MCCC2):c.735dup (p.Val247fs)	rs770769655
NM_022132.5(MCCC2):c.803G>C (p.Arg268Thr)	rs119103223
NM_022132.5(MCCC2):c.838G>T (p.Asp280Tyr)	rs119103226
NM_022132.5(MCCC2):c.891_892del (p.Lys298fs)
NM_022132.5(MCCC2):c.929C>G (p.Pro310Arg)	rs119103221
NM_022132.5(MCCC2):c.987dup (p.Asp330Ter)	rs1554137532
Single allele

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