List of variants reported as likely pathogenic for carbohydrate metabolism disease by Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000181.4(GUSB):c.1469A>G (p.Asp490Gly)	rs2115900875
NM_000298.6(PKLR):c.829G>T (p.Glu277Ter)
NM_000352.6(ABCC8):c.2522G>A (p.Arg841Gln)	rs547150342
NM_000525.4(KCNJ11):c.365T>C (p.Leu122Pro)	rs1591695840
NM_005271.5(GLUD1):c.943C>T (p.His315Tyr)
NM_152419.3(HGSNAT):c.742G>A (p.Gly248Arg)
NM_198586.3(NHLRC1):c.391G>A (p.Gly131Arg)	rs967125703

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