ClinVar Miner

List of variants in gene GCK reported as pathogenic by Genetic Services Laboratory, University of Chicago

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 12
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NM_000162.5(GCK):c.106C>T (p.Arg36Trp) rs762263694
NM_000162.5(GCK):c.1165G>C (p.Val389Leu) rs1350717554
NM_000162.5(GCK):c.1358_1360CGG[3] (p.Ala454dup) rs1554334433
NM_000162.5(GCK):c.295del (p.Trp99fs) rs1554335752
NM_000162.5(GCK):c.317_333del (p.Gln106fs) rs797045595
NM_000162.5(GCK):c.544G>A (p.Val182Met) rs587780345
NM_000162.5(GCK):c.667G>A (p.Gly223Ser) rs1360415315
NM_000162.5(GCK):c.676G>A (p.Val226Met) rs148311934
NM_000162.5(GCK):c.678_679+2del rs1554335391
NM_000162.5(GCK):c.706G>A (p.Glu236Lys) rs587780347
NM_000162.5(GCK):c.775G>A (p.Ala259Thr) rs1375656631
NM_000162.5(GCK):c.941T>C (p.Leu314Pro) rs1554334886

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