List of variants studied for disorder of glycolysis by Translational Genomics Laboratory, University of Maryland School of Medicine

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_000162.5(GCK):c.571C>T (p.Arg191Trp)	rs1085307455	0.00001
NM_000162.5(GCK):c.787T>C (p.Ser263Pro)	rs193922331	0.00001
NM_000162.5(GCK):c.1113C>A (p.Cys371Ter)	rs556581174
NM_000162.5(GCK):c.113A>C (p.Gln38Pro)	rs1064794268
NM_000162.5(GCK):c.1253+2T>A	rs1057524902
NM_000162.5(GCK):c.184G>A (p.Val62Met)	rs1064793998
NM_000162.5(GCK):c.680-1G>A	rs1057524905
NM_000162.5(GCK):c.718A>G (p.Asn240Asp)	rs1562715574
NM_000162.5(GCK):c.748C>T (p.Arg250Cys)	rs1057524904
NM_000207.3(INS):c.290C>G (p.Thr97Ser)	rs1564911425
NM_000525.4(KCNJ11):c.697C>T (p.Leu233Phe)	rs1564865302
NM_000545.8(HNF1A):c.1330_1331del (p.Gln444fs)	rs776793516
NM_000545.8(HNF1A):c.956-1G>C	rs1565886545
NM_175914.5(HNF4A):c.201del (p.Lys68fs)	rs1385251852
NM_175914.5(HNF4A):c.265C>T (p.Gln89Ter)	rs1568724014
NM_175914.5(HNF4A):c.582+1G>A	rs1392795567
NM_175914.5(HNF4A):c.932G>A (p.Arg311His)	rs1375557127

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