List of variants reported as likely pathogenic for disorder of glycolysis by 3billion, Medical Genetics

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp)	rs116100695	0.00270
NM_000175.5(GPI):c.671C>T (p.Thr224Met)	rs61754634	0.00005
NM_000162.5(GCK):c.571C>T (p.Arg191Trp)	rs1085307455	0.00001
NM_000298.6(PKLR):c.1178A>G (p.Asn393Ser)	rs776594413	0.00001
NM_000162.5(GCK):c.107G>C (p.Arg36Pro)	rs193922261
NM_000162.5(GCK):c.1251del (p.Ser418fs)	rs2128819092
NM_000162.5(GCK):c.671T>C (p.Met224Thr)	rs2128821476
NM_000162.5(GCK):c.688T>C (p.Cys230Arg)	rs794727839
NM_000298.6(PKLR):c.1015G>A (p.Asp339Asn)	rs747097960
NM_175914.5(HNF4A):c.179G>T (p.Gly60Val)	rs2146368271

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