ClinVar Miner

List of variants reported as likely pathogenic for Vitamin B12-responsive methylmalonic acidemia type cblB by Counsyl

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Total variants: 13
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NM_052845.4(MMAB):c.107del (p.Gly36fs) rs1555276160
NM_052845.4(MMAB):c.12C>A (p.Cys4Ter) rs1481415459
NM_052845.4(MMAB):c.197-2del rs1555275604
NM_052845.4(MMAB):c.349-1G>C rs864309510
NM_052845.4(MMAB):c.454G>T (p.Glu152Ter) rs557884699
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.573_577dup (p.Glu193fs) rs1555274497
NM_052845.4(MMAB):c.578_584dup (p.Val196fs) rs1555274493
NM_052845.4(MMAB):c.583_584+18del rs1555274484
NM_052845.4(MMAB):c.660_661del (p.Phe221fs) rs1383825118

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