ClinVar Miner

List of variants studied for Methylmalonic aciduria cblB type by Invitae

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Total variants: 23
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HGVS dbSNP
NC_000012.11:g.(?_109998825)_(110003001_?)del
NM_052845.3(MMAB):c.-180C>T rs66486014
NM_052845.4(MMAB):c.185C>T (p.Thr62Met) rs115802744
NM_052845.4(MMAB):c.288T>C (p.Ile96=) rs62000414
NM_052845.4(MMAB):c.291-1G>A rs199971687
NM_052845.4(MMAB):c.316A>G (p.Lys106Glu) rs765917146
NM_052845.4(MMAB):c.349-8dup rs759049347
NM_052845.4(MMAB):c.373G>A (p.Gly125Ser) rs193015172
NM_052845.4(MMAB):c.394T>C (p.Cys132Arg) rs147457956
NM_052845.4(MMAB):c.402G>A (p.Ser134=)
NM_052845.4(MMAB):c.403G>A (p.Ala135Thr) rs35648932
NM_052845.4(MMAB):c.406C>A (p.Arg136=)
NM_052845.4(MMAB):c.424T>C (p.Tyr142His)
NM_052845.4(MMAB):c.519+1G>A
NM_052845.4(MMAB):c.541G>A (p.Ala181Thr) rs1439180009
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp) rs28941784
NM_052845.4(MMAB):c.569G>A (p.Arg190His) rs756414548
NM_052845.4(MMAB):c.56_57delinsAA (p.Arg19Gln) rs36013132
NM_052845.4(MMAB):c.577_578GA[2] (p.Arg194fs)
NM_052845.4(MMAB):c.583C>T (p.Arg195Cys)
NM_052845.4(MMAB):c.620C>T (p.Ala207Val) rs61739388
NM_052845.4(MMAB):c.644+1G>A
NM_052845.4(MMAB):c.700C>T (p.Gln234Ter) rs369296618

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