List of variants studied for carbohydrate metabolism disease by Medical Molecular Genetics Department, National Research Center

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000046.5(ARSB):c.478C>T (p.Arg160Ter)	rs1255777033	0.00002
NM_000046.5(ARSB):c.152T>C (p.Leu51Pro)	rs1554032220
NM_000046.5(ARSB):c.189_190insA (p.Gly64fs)	rs1554032196
NM_000046.5(ARSB):c.245T>G (p.Leu82Arg)	rs749465732
NM_000046.5(ARSB):c.257del (p.Tyr86fs)	rs1554032122
NM_000046.5(ARSB):c.281C>T (p.Ser94Leu)	rs1554032099
NM_000046.5(ARSB):c.288C>G (p.Ser96Arg)	rs1554032095
NM_000046.5(ARSB):c.479G>A (p.Arg160Gln)	rs1196325597
NM_000152.5(GAA):c.1193T>C (p.Leu398Pro)	rs1598577666
NM_000152.5(GAA):c.1431del (p.Ile477fs)	rs1598580364
NM_000152.5(GAA):c.2434G>A (p.Asp812Asn)	rs1433117170

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