List of variants studied for disorder of glycolysis by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_053013.4(ENO3):c.115G>A (p.Ala39Thr)	rs141103742	0.00021
NM_003597.5(KLF11):c.23G>A (p.Gly8Asp)	rs1553312826	0.00003
NM_000352.6(ABCC8):c.3517G>A (p.Val1173Met)	rs141322087	0.00002
NM_001807.6(CEL):c.341-2A>G	rs755075929	0.00002
NM_175914.5(HNF4A):c.341G>A (p.Arg114Gln)	rs149611886	0.00001
NM_000352.6(ABCC8):c.3399+6G>A	rs1954472209
NM_000545.8(HNF1A):c.1624-2A>G	rs1877309778
NM_001042376.3(INS-IGF2):c.155C>T (p.Pro52Leu)	rs145038693
NM_175914.5(HNF4A):c.944TGC[4] (p.Leu319del)	rs776489992

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