List of variants in gene combination MMAB, MVK reported as likely pathogenic for Methylmalonic aciduria, cblB type

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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: 8

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HGVS	dbSNP	gnomAD frequency
NM_052845.4(MMAB):c.12C>A (p.Cys4Ter)	rs1481415459	0.00002
NM_052845.4(MMAB):c.107del (p.Gly36fs)	rs1555276160
NM_052845.4(MMAB):c.112C>T (p.Gln38Ter)
NM_052845.4(MMAB):c.134+1G>T
NM_052845.4(MMAB):c.134+2T>A
NM_052845.4(MMAB):c.2T>G (p.Met1Arg)	rs869320655
NM_052845.4(MMAB):c.32del (p.Gly11fs)
NM_052845.4(MMAB):c.63C>A (p.Cys21Ter)

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