ClinVar Miner

List of variants reported as uncertain significance for glucose metabolism disease by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

Included ClinVar conditions (130):
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ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_000545.8(HNF1A):c.716C>T (p.Ala239Val) rs587778397 0.00016
NM_000352.6(ABCC8):c.2666A>C (p.Lys889Thr) rs761862121 0.00002
NM_000162.5(GCK):c.295T>C (p.Trp99Arg) rs1554335751
NM_000162.5(GCK):c.835G>C (p.Glu279Gln) rs104894005
NM_000352.6(ABCC8):c.1844C>G (p.Ser615Cys)
NM_000352.6(ABCC8):c.4297G>C (p.Gly1433Arg)
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_000507.4(FBP1):c.114_119dup (p.Cys39_Thr40dup) rs1554682769
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_001040716.2(PC):c.1130G>A (p.Arg377Gln)
NM_001040716.2(PC):c.1486C>T (p.Arg496Trp) rs947957837
NM_001040716.2(PC):c.562G>A (p.Gly188Ser)
NM_001807.6(CEL):c.1974del (p.Val659fs) rs1341981506
NM_001807.6(CEL):c.337C>T (p.Gln113Ter) rs1200339761
NM_003051.4(SLC16A1):c.1079C>G (p.Ala360Gly)
NM_004563.4(PCK2):c.1906C>T (p.Arg636Cys)
NM_005271.5(GLUD1):c.1493C>T (p.Ser498Leu) rs121909731
NM_024537.4(CARS2):c.845A>G (p.His282Arg) rs2139765647
NM_173851.3(SLC30A8):c.592C>T (p.Gln198Ter)
NM_175914.5(HNF4A):c.460A>T (p.Ile154Phe)

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