ClinVar Miner

List of variants in gene GCK reported as pathogenic by GeneDx

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Gene type:
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Total variants: 27
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HGVS dbSNP
NM_000162.5(GCK):c.1003del (p.Val335fs) rs193922254
NM_000162.5(GCK):c.1019+2T>G rs193929376
NM_000162.5(GCK):c.1163dup (p.Val389fs) rs886042015
NM_000162.5(GCK):c.148dup (p.His50fs) rs886041690
NM_000162.5(GCK):c.184G>A (p.Val62Met) rs1064793998
NM_000162.5(GCK):c.208+1G>A rs1554335913
NM_000162.5(GCK):c.214G>A (p.Gly72Arg) rs193922289
NM_000162.5(GCK):c.295T>C (p.Trp99Arg) rs1554335751
NM_000162.5(GCK):c.431del (p.Leu144fs) rs1064796410
NM_000162.5(GCK):c.435_436dup (p.Leu146fs) rs1064793428
NM_000162.5(GCK):c.449T>C (p.Phe150Ser) rs193922297
NM_000162.5(GCK):c.483+2T>C rs1554335564
NM_000162.5(GCK):c.533G>A (p.Gly178Glu) rs886039380
NM_000162.5(GCK):c.544G>A (p.Val182Met) rs587780345
NM_000162.5(GCK):c.556C>T (p.Arg186Ter) rs104894006
NM_000162.5(GCK):c.571C>T (p.Arg191Trp) rs1085307455
NM_000162.5(GCK):c.580-1G>A rs1554335421
NM_000162.5(GCK):c.616A>C (p.Thr206Pro) rs587780346
NM_000162.5(GCK):c.645C>A (p.Tyr215Ter) rs144723656
NM_000162.5(GCK):c.645C>G (p.Tyr215Ter) rs144723656
NM_000162.5(GCK):c.675C>G (p.Ile225Met) rs772754004
NM_000162.5(GCK):c.676G>A (p.Val226Met) rs148311934
NM_000162.5(GCK):c.683C>T (p.Thr228Met) rs80356655
NM_000162.5(GCK):c.766G>A (p.Glu256Lys) rs769268803
NM_000162.5(GCK):c.76C>T (p.Gln26Ter) rs193922329
NM_000162.5(GCK):c.781G>A (p.Gly261Arg) rs104894008
NM_000162.5(GCK):c.871A>T (p.Lys291Ter) rs193922335

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