ClinVar Miner

List of variants reported as pathogenic for Vitamin B12-responsive methylmalonic acidemia type cblB by Baumgartner lab,University Children's Hospital Zurich

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Total variants: 33
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HGVS dbSNP
NM_052845.4(MMAB):c.12C>A (p.Cys4Ter) rs1481415459
NM_052845.4(MMAB):c.135-1G>A
NM_052845.4(MMAB):c.197-1G>T rs763935916
NM_052845.4(MMAB):c.220G>T (p.Glu74Ter)
NM_052845.4(MMAB):c.23del (p.Ser8fs)
NM_052845.4(MMAB):c.291-1G>A rs199971687
NM_052845.4(MMAB):c.291-1G>T
NM_052845.4(MMAB):c.348+2_348+3del
NM_052845.4(MMAB):c.367del (p.Asp123fs)
NM_052845.4(MMAB):c.380C>A (p.Ala127Asp)
NM_052845.4(MMAB):c.422-1G>C
NM_052845.4(MMAB):c.462G>T (p.Glu154Asp)
NM_052845.4(MMAB):c.487C>T (p.Gln163Ter)
NM_052845.4(MMAB):c.519+1G>A rs1592998207
NM_052845.4(MMAB):c.521C>T (p.Ser174Leu) rs140881518
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp) rs28941784
NM_052845.4(MMAB):c.557G>A (p.Arg186Gln) rs773059864
NM_052845.4(MMAB):c.558_559delinsC (p.Ala187fs)
NM_052845.4(MMAB):c.560_561insGGCACGGGC (p.Val188_Cys189insAlaArgAla)
NM_052845.4(MMAB):c.562G>A (p.Val188Met) rs768176676
NM_052845.4(MMAB):c.563_577dup (p.Val188_Ala192dup) rs1555274496
NM_052845.4(MMAB):c.568C>T (p.Arg190Cys) rs398124434
NM_052845.4(MMAB):c.569G>A (p.Arg190His) rs756414548
NM_052845.4(MMAB):c.571C>T (p.Arg191Trp) rs376128990
NM_052845.4(MMAB):c.572G>A (p.Arg191Gln) rs746219370
NM_052845.4(MMAB):c.577G>A (p.Glu193Lys) rs749758687
NM_052845.4(MMAB):c.581_582dup (p.Arg195fs)
NM_052845.4(MMAB):c.582A>T (p.Arg194Ser) rs1057519147
NM_052845.4(MMAB):c.625G>A (p.Val209Met) rs200903284
NM_052845.4(MMAB):c.650G>T (p.Ser217Ile)
NM_052845.4(MMAB):c.656_659del (p.Tyr219fs)
NM_052845.4(MMAB):c.700C>T (p.Gln234Ter) rs369296618
NM_052845.4(MMAB):c.87T>A (p.Tyr29Ter)

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