ClinVar Miner

List of variants in gene MMAB, MVK studied for Vitamin B12-responsive methylmalonic acidemia type cblB

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Total variants: 16
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NM_052845.3(MMAB):c.-180C>T rs66486014
NM_052845.3(MMAB):c.-69G>A rs886048928
NM_052845.4(MMAB):c.-4G>C rs372195202
NM_052845.4(MMAB):c.10T>C (p.Cys4Arg) rs146668962
NM_052845.4(MMAB):c.12C>A (p.Cys4Ter) rs1481415459
NM_052845.4(MMAB):c.14G>A (p.Gly5Asp)
NM_052845.4(MMAB):c.16C>T (p.Leu6=) rs1190176115
NM_052845.4(MMAB):c.185C>T (p.Thr62Met) rs115802744
NM_052845.4(MMAB):c.1A>C (p.Met1Leu)
NM_052845.4(MMAB):c.288T>C (p.Ile96=) rs62000414
NM_052845.4(MMAB):c.2T>C (p.Met1Thr) rs869320655
NM_052845.4(MMAB):c.2T>G (p.Met1Arg)
NM_052845.4(MMAB):c.56G>A (p.Arg19His) rs10774775
NM_052845.4(MMAB):c.57C>A (p.Arg19=) rs10774774
NM_052845.4(MMAB):c.7G>A (p.Val3Met)

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