ClinVar Miner

List of variants studied for Methylmalonic aciduria, cblB type by Baumgartner lab, University Children's Hospital Zurich

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp) rs28941784 0.00014
NM_052845.4(MMAB):c.521C>T (p.Ser174Leu) rs140881518 0.00007
NM_052845.4(MMAB):c.562G>A (p.Val188Met) rs768176676 0.00005
NM_052845.4(MMAB):c.571C>T (p.Arg191Trp) rs376128990 0.00004
NM_052845.4(MMAB):c.700C>T (p.Gln234Ter) rs369296618 0.00004
NM_052845.4(MMAB):c.291-1G>A rs199971687 0.00003
NM_052845.4(MMAB):c.572G>A (p.Arg191Gln) rs746219370 0.00003
NM_052845.4(MMAB):c.12C>A (p.Cys4Ter) rs1481415459 0.00002
NM_052845.4(MMAB):c.568C>T (p.Arg190Cys) rs398124434 0.00002
NM_052845.4(MMAB):c.197-1G>T rs763935916 0.00001
NM_052845.4(MMAB):c.380C>A (p.Ala127Asp) rs778169806 0.00001
NM_052845.4(MMAB):c.577G>A (p.Glu193Lys) rs749758687 0.00001
NM_052845.4(MMAB):c.625G>A (p.Val209Met) rs200903284 0.00001
NM_052845.4(MMAB):c.135-1G>A rs1566137903
NM_052845.4(MMAB):c.220G>T (p.Glu74Ter) rs2136208377
NM_052845.4(MMAB):c.23del (p.Ser8fs) rs2136213668
NM_052845.4(MMAB):c.291-1G>T rs199971687
NM_052845.4(MMAB):c.348+2_348+3del rs2136203848
NM_052845.4(MMAB):c.367del (p.Asp123fs) rs1387128853
NM_052845.4(MMAB):c.422-1G>C rs2136199436
NM_052845.4(MMAB):c.462G>T (p.Glu154Asp) rs1392513631
NM_052845.4(MMAB):c.487C>T (p.Gln163Ter) rs2136199221
NM_052845.4(MMAB):c.519+1G>A rs1592998207
NM_052845.4(MMAB):c.557G>A (p.Arg186Gln) rs773059864
NM_052845.4(MMAB):c.558_559delinsC (p.Ala187fs) rs2136198361
NM_052845.4(MMAB):c.560_561insGGCACGGGC (p.Ala187_Val188insAlaArgAla) rs2136198351
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.581_582dup (p.Arg195fs) rs1592997663
NM_052845.4(MMAB):c.582A>T (p.Arg194Ser) rs1057519147
NM_052845.4(MMAB):c.650G>T (p.Ser217Ile) rs2136192612
NM_052845.4(MMAB):c.656_659del (p.Tyr219fs) rs2136192590
NM_052845.4(MMAB):c.87T>A (p.Tyr29Ter) rs2136213423

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