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

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000352.6(ABCC8):c.4325A>T (p.Glu1442Val)	rs562680077	0.00008
NM_000284.4(PDHA1):c.522C>T (p.Gly174=)	rs769308417	0.00001
NM_012434.5(SLC17A5):c.574C>T (p.Pro192Ser)	rs149233119	0.00001
NM_000181.4(GUSB):c.1469A>G (p.Asp490Gly)	rs2115900875
NM_000199.5(SGSH):c.1A>C (p.Met1Leu)	rs1250300189
NM_000298.6(PKLR):c.657_677del (p.Asp220_Leu226del)
NM_000298.6(PKLR):c.829G>T (p.Glu277Ter)
NM_000352.6(ABCC8):c.2522G>A (p.Arg841Gln)	rs547150342
NM_000352.6(ABCC8):c.2557G>A (p.Asp853Asn)	rs1954765607
NM_000458.4(HNF1B):c.1436A>G (p.His479Arg)
NM_000525.4(KCNJ11):c.365T>C (p.Leu122Pro)	rs1591695840
NM_005271.5(GLUD1):c.943C>T (p.His315Tyr)
NM_017947.4(MOCOS):c.633C>A (p.Tyr211Ter)	rs2091405838
NM_152419.3(HGSNAT):c.742G>A (p.Gly248Arg)
NM_198586.3(NHLRC1):c.391G>A (p.Gly131Arg)	rs967125703

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