ClinVar Miner

List of variants studied for Methylmalonic aciduria cblB type by Counsyl

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Total variants: 28
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HGVS dbSNP
NM_052845.3(MMAB):c.-69G>A rs886048928
NM_052845.4(MMAB):c.107del (p.Gly36fs) rs1555276160
NM_052845.4(MMAB):c.12C>A (p.Cys4Ter) rs1481415459
NM_052845.4(MMAB):c.197-1G>T rs763935916
NM_052845.4(MMAB):c.197-2del rs1555275604
NM_052845.4(MMAB):c.19_36GGGAGCCGTCTTGGCCTG[1] (p.7_12GSRLGL[1]) rs770077320
NM_052845.4(MMAB):c.291-1G>A rs199971687
NM_052845.4(MMAB):c.349-1G>C rs864309510
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.398C>T (p.Ser133Phe) rs749936057
NM_052845.4(MMAB):c.454G>T (p.Glu152Ter) rs557884699
NM_052845.4(MMAB):c.521C>T (p.Ser174Leu) rs140881518
NM_052845.4(MMAB):c.548A>T (p.His183Leu) rs752866643
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.562G>A (p.Val188Met) rs768176676
NM_052845.4(MMAB):c.563_577dup (p.Val188_Ala192dup) rs1555274496
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.573_577dup (p.Glu193fs) rs1555274497
NM_052845.4(MMAB):c.577G>A (p.Glu193Lys) rs749758687
NM_052845.4(MMAB):c.578_584dup (p.Val196fs) rs1555274493
NM_052845.4(MMAB):c.583_584+18del rs1555274484
NM_052845.4(MMAB):c.584+14_584+33del rs1555274482
NM_052845.4(MMAB):c.585-2A>C rs1555274254
NM_052845.4(MMAB):c.656A>G (p.Tyr219Cys) rs765547005
NM_052845.4(MMAB):c.658_659CT[1] (p.Phe221fs) rs1383825118

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