List of variants studied for disorder of glycolysis by Juno Genomics, Hangzhou Juno Genomics, Inc

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Total variants: 24

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HGVS	dbSNP	gnomAD frequency
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp)	rs116100695	0.00270
NM_000352.6(ABCC8):c.824G>A (p.Arg275Gln)	rs185040406	0.00006
NM_000162.5(GCK):c.1148C>T (p.Ser383Leu)	rs777870079
NM_000162.5(GCK):c.1340G>A (p.Arg447Gln)	rs1131691416
NM_000162.5(GCK):c.562G>A (p.Ala188Thr)	rs751279776
NM_000162.5(GCK):c.790G>A (p.Gly264Ser)	rs193929373
NM_000162.5(GCK):c.800dup (p.Asp267fs)
NM_000207.3(INS):c.94G>A (p.Gly32Ser)	rs80356664
NM_000209.4(PDX1):c.433G>A (p.Glu145Lys)
NM_000291.4(PGK1):c.182T>C (p.Met61Thr)
NM_000298.6(PKLR):c.382G>C (p.Ala128Pro)
NM_000298.6(PKLR):c.958G>C (p.Val320Leu)
NM_000298.6(PKLR):c.965+1G>A
NM_000458.4(HNF1B):c.27_29del (p.Gln10del)
NM_000458.4(HNF1B):c.345-2A>G
NM_000458.4(HNF1B):c.443C>T (p.Ser148Leu)
NM_000458.4(HNF1B):c.541C>T (p.Arg181Ter)
NM_000545.8(HNF1A):c.1136_1137del (p.Pro379fs)	rs1593060890
NM_000545.8(HNF1A):c.686G>A (p.Arg229Gln)	rs1057520779
NM_001715.3(BLK):c.1013T>C (p.Ile338Thr)
NM_001715.3(BLK):c.458G>A (p.Ser153Asn)
NM_001715.3(BLK):c.530A>G (p.Tyr177Cys)
NM_001807.6(CEL):c.959C>T (p.Pro320Leu)
NM_175914.5(HNF4A):c.583-1G>A

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