ClinVar Miner

List of variants studied for Beta-D-mannosidosis by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_005908.4(MANBA):c.1922G>A (p.Arg641His) rs569997475 0.00006
NM_005908.4(MANBA):c.2158-2A>G rs772852668 0.00002
NM_005908.4(MANBA):c.378+1G>A rs142029636 0.00002
NM_005908.4(MANBA):c.544C>T (p.Arg182Trp) rs374377679 0.00002
NM_005908.4(MANBA):c.550-1G>A rs760404534 0.00002
NM_005908.4(MANBA):c.693G>A (p.Trp231Ter) rs763849774 0.00002
NM_005908.4(MANBA):c.563_572dup (p.Asp191_Trp192insTer) rs752343321 0.00001
NM_005908.4(MANBA):c.960+1G>A rs890870104 0.00001
NC_000004.11:g.(103635719_103644027)_(103645125_103647745)del
NM_000137.4(FAH):c.960+1G>A rs1057517201
NM_005908.4(MANBA):c.1398G>A (p.Trp466Ter) rs1208178394
NM_005908.4(MANBA):c.1454_1455del (p.Tyr485fs) rs1188116333
NM_005908.4(MANBA):c.1540_1541del (p.Val514fs) rs775574131
NM_005908.4(MANBA):c.1753C>T (p.Arg585Ter)
NM_005908.4(MANBA):c.2175dup (p.Ser726fs) rs771465504
NM_005908.4(MANBA):c.273-1G>A
NM_005908.4(MANBA):c.916del (p.Leu306fs)

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