List of variants in gene MMUT reported as likely pathogenic for Methylmalonic acidemia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000255.4(MMUT):c.2026G>A (p.Ala676Thr)	rs147715336	0.00011
NM_000255.4(MMUT):c.753+1G>A	rs1028877309	0.00001
NM_000255.4(MMUT):c.1073T>C (p.Leu358Pro)
NM_000255.4(MMUT):c.1078G>T (p.Glu360Ter)
NM_000255.4(MMUT):c.1295A>C (p.Glu432Ala)	rs1297307718
NM_000255.4(MMUT):c.1847G>A (p.Arg616His)	rs1369724342
NM_000255.4(MMUT):c.1946del (p.Pro649fs)	rs1554158754
NM_000255.4(MMUT):c.2033A>G (p.His678Arg)

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