ClinVar Miner

List of variants reported as likely pathogenic for Methylmalonic aciduria cblB type

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Total variants: 15
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HGVS dbSNP
NC_000012.12:g.(?_109561020)_(109565196_?)del
NM_052845.3(MMAB):c.107delG (p.Gly36Alafs) rs1555276160
NM_052845.3(MMAB):c.12C>A (p.Cys4Ter) rs1481415459
NM_052845.3(MMAB):c.197-2delA rs1555275604
NM_052845.3(MMAB):c.291-1G>A rs199971687
NM_052845.3(MMAB):c.349_354delATCCAG rs864309510
NM_052845.3(MMAB):c.454G>T (p.Glu152Ter) rs557884699
NM_052845.3(MMAB):c.563_577dupTGTGCCGCCGGGCCG (p.Ala192_Glu193insValCysArgArgAla) rs1555274496
NM_052845.3(MMAB):c.569G>A (p.Arg190His) rs756414548
NM_052845.3(MMAB):c.571C>T (p.Arg191Trp) rs376128990
NM_052845.3(MMAB):c.573_577dup (p.Glu193Glyfs) rs1555274497
NM_052845.3(MMAB):c.577G>C (p.Glu193Gln) rs749758687
NM_052845.3(MMAB):c.578_584dup (p.Val196Glufs) rs1555274493
NM_052845.3(MMAB):c.583_584+18del20 rs1555274484
NM_052845.3(MMAB):c.660_661delCT (p.Phe221Hisfs) rs1383825118

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