ClinVar Miner

List of variants in gene MMAB reported as uncertain significance for Methylmalonic aciduria cblB type

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Total variants: 21
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HGVS dbSNP
NM_052845.4(MMAB):c.19_36GGGAGCCGTCTTGGCCTG[1] (p.7_12GSRLGL[1]) rs770077320
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.377C>T (p.Ser126Leu) rs771053425
NM_052845.4(MMAB):c.388_411del (p.Thr130_Glu137del) rs1555274650
NM_052845.4(MMAB):c.394T>C (p.Cys132Arg) rs147457956
NM_052845.4(MMAB):c.398C>T (p.Ser133Phe) rs749936057
NM_052845.4(MMAB):c.402G>A (p.Ser134=)
NM_052845.4(MMAB):c.406C>A (p.Arg136=)
NM_052845.4(MMAB):c.424T>C (p.Tyr142His)
NM_052845.4(MMAB):c.521C>T (p.Ser174Leu) rs140881518
NM_052845.4(MMAB):c.541G>A (p.Ala181Thr) rs1439180009
NM_052845.4(MMAB):c.548A>T (p.His183Leu) rs752866643
NM_052845.4(MMAB):c.557G>A (p.Arg186Gln) rs773059864
NM_052845.4(MMAB):c.562G>A (p.Val188Met) rs768176676
NM_052845.4(MMAB):c.569G>A (p.Arg190His) rs756414548
NM_052845.4(MMAB):c.577G>A (p.Glu193Lys) rs749758687
NM_052845.4(MMAB):c.583C>T (p.Arg195Cys)
NM_052845.4(MMAB):c.620C>T (p.Ala207Val) rs61739388
NM_052845.4(MMAB):c.656A>G (p.Tyr219Cys) rs765547005

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