List of variants reported as likely pathogenic for oligosaccharidosis by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 41

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HGVS	dbSNP	gnomAD frequency
NM_000434.4(NEU1):c.649G>A (p.Val217Met)	rs28940583	0.00017
NM_005908.4(MANBA):c.1922G>A (p.Arg641His)	rs569997475	0.00006
NM_000308.4(CTSA):c.1315G>A (p.Gly439Ser)	rs137854547	0.00003
NM_000308.4(CTSA):c.601-2A>G	rs778159802	0.00003
NM_000308.4(CTSA):c.1318T>G (p.Phe440Val)	rs137854540	0.00002
NM_000434.4(NEU1):c.893C>T (p.Ala298Val)	rs104893981	0.00002
NM_000528.4(MAN2B1):c.2140T>C (p.Trp714Arg)	rs864621993	0.00002
NM_000528.4(MAN2B1):c.2867T>G (p.Leu956Arg)	rs768233248	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_000308.4(CTSA):c.1123C>T (p.Arg375Ter)	rs1189568492	0.00001
NM_000434.4(NEU1):c.692T>A (p.Leu231His)	rs762400331	0.00001
NM_000528.4(MAN2B1):c.1645-2A>T	rs891030696	0.00001
NM_000528.4(MAN2B1):c.222C>A (p.Asp74Glu)	rs746702002	0.00001
NM_000528.4(MAN2B1):c.788C>T (p.Pro263Leu)	rs746808159	0.00001
NC_000004.11:g.(103635719_103644027)_(103645125_103647745)del
NM_000027.4(AGA):c.179G>A (p.Gly60Asp)	rs121964907
NM_000027.4(AGA):c.39del (p.Leu15fs)
NM_000027.4(AGA):c.3G>A (p.Met1Ile)
NM_000027.4(AGA):c.508-2A>C
NM_000027.4(AGA):c.755G>A (p.Gly252Glu)	rs386833433
NM_000137.4(FAH):c.960+1G>A	rs1057517201
NM_000147.5(FUCA1):c.1289_1301del (p.Leu430fs)
NM_000147.5(FUCA1):c.952G>T (p.Glu318Ter)	rs201499886
NM_000232.5(SGCB):c.544A>G (p.Thr182Ala)
NM_000262.3(NAGA):c.985C>T (p.Arg329Trp)	rs121434530
NM_000308.4(CTSA):c.112del (p.Leu38fs)	rs1241378191
NM_000434.4(NEU1):c.1004C>A (p.Pro335Gln)
NM_000434.4(NEU1):c.1021C>G (p.Arg341Gly)
NM_000434.4(NEU1):c.163C>T (p.Gln55Ter)
NM_000528.4(MAN2B1):c.164G>T (p.Cys55Phe)	rs864621975
NM_000528.4(MAN2B1):c.1929-2A>G	rs2023856348
NM_000528.4(MAN2B1):c.2398G>C (p.Gly800Arg)	rs398123456
NM_000528.4(MAN2B1):c.2747G>A (p.Arg916His)	rs758765126
NM_000528.4(MAN2B1):c.2802dup (p.Val935fs)	rs1057516864
NM_000528.4(MAN2B1):c.590C>G (p.Pro197Arg)	rs864621977
NM_005908.4(MANBA):c.1540_1541del (p.Val514fs)	rs775574131
NM_005908.4(MANBA):c.1753C>T (p.Arg585Ter)
NM_005908.4(MANBA):c.273-1G>A
NM_005908.4(MANBA):c.916del (p.Leu306fs)

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