ClinVar Miner

List of variants studied for disorder of glycolysis by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

Included ClinVar conditions (69):
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ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_000298.6(PKLR):c.1516G>A (p.Val506Ile) rs8177988 0.00414
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695 0.00270
NM_000290.4(PGAM2):c.233G>A (p.Trp78Ter) rs10250779 0.00166
NM_000298.6(PKLR):c.1529G>A (p.Arg510Gln) rs113403872 0.00052
NM_000525.4(KCNJ11):c.101G>A (p.Arg34His) rs141145502 0.00001
NM_001807.6(CEL):c.703C>T (p.Arg235Ter) rs778611627 0.00001
NM_053013.4(ENO3):c.559G>A (p.Glu187Lys) rs772218199 0.00001
NM_000162.5(GCK):c.295T>C (p.Trp99Arg) rs1554335751
NM_000162.5(GCK):c.671T>C (p.Met224Thr) rs2128821476
NM_000162.5(GCK):c.835G>C (p.Glu279Gln) rs104894005
NM_000298.6(PKLR):c.1411A>T (p.Ile471Phe)
NM_000298.6(PKLR):c.1510C>T (p.Arg504Cys)
NM_000298.6(PKLR):c.68T>G (p.Leu23Ter)
NM_000298.6(PKLR):c.914G>A (p.Gly305Glu)
NM_000352.6(ABCC8):c.563A>G (p.Asn188Ser) rs797045213
NM_000365.6(TPI1):c.32del (p.Gly11fs)
NM_000365.6(TPI1):c.698G>C (p.Gly233Ala)
NM_000458.4(HNF1B):c.1167_1186del (p.Asp390fs)
NM_000458.4(HNF1B):c.953A>G (p.Tyr318Cys)
NM_000525.4(KCNJ11):c.1046T>C (p.Leu349Pro)
NM_000525.4(KCNJ11):c.212C>T (p.Thr71Ile)
NM_000525.4(KCNJ11):c.472A>T (p.Met158Leu) rs1953585385
NM_000545.8(HNF1A):c.589AAG[1] (p.Lys198del)
NM_000545.8(HNF1A):c.850_851del (p.Asp284fs)
NM_001807.6(CEL):c.1974del (p.Val659fs) rs1341981506
NM_001807.6(CEL):c.337C>T (p.Gln113Ter) rs1200339761
NM_005566.4(LDHA):c.476T>A (p.Ile159Asn) rs768761936
NM_053013.4(ENO3):c.1176+2T>C
NM_175914.5(HNF4A):c.460A>T (p.Ile154Phe)

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