List of variants in gene combination MMAB, MVK reported as pathogenic for inborn disorder of amino acid metabolism

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

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_052845.4(MMAB):c.12C>A (p.Cys4Ter)	rs1481415459	0.00002
NC_000012.11:g.(?_110009444)_(110012715_?)del
NC_000012.11:g.(?_110011228)_(110017709_?)del
NM_052845.4(MMAB):c.116del (p.Gly39fs)
NM_052845.4(MMAB):c.1A>C (p.Met1Leu)	rs1884749143
NM_052845.4(MMAB):c.23del (p.Ser8fs)	rs2136213668
NM_052845.4(MMAB):c.2T>A (p.Met1Lys)
NM_052845.4(MMAB):c.2T>C (p.Met1Thr)	rs869320655
NM_052845.4(MMAB):c.55_57delinsTAA (p.Arg19Ter)
NM_052845.4(MMAB):c.61dup (p.Cys21fs)	rs2136213505
NM_052845.4(MMAB):c.87T>A (p.Tyr29Ter)	rs2136213423

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