ClinVar Miner

List of variants in gene GCK reported as pathogenic by OMIM

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Total variants: 15
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HGVS dbSNP
GCK, IVS4DS, 15-BP DEL
GCK, VAL91LEU
NM_000162.5(GCK):c.1015G>A (p.Glu339Lys) rs397514580
NM_000162.5(GCK):c.1132G>A (p.Ala378Thr) rs104894016
NM_000162.5(GCK):c.1363G>A (p.Val455Met) rs104894012
NM_000162.5(GCK):c.1367C>T (p.Ala456Val) rs104894014
NM_000162.5(GCK):c.391T>C (p.Ser131Pro) rs104894010
NM_000162.5(GCK):c.556C>T (p.Arg186Ter) rs104894006
NM_000162.5(GCK):c.629T>A (p.Met210Lys) rs80356654
NM_000162.5(GCK):c.641A>G (p.Tyr214Cys) rs104894015
NM_000162.5(GCK):c.683C>T (p.Thr228Met) rs80356655
NM_000162.5(GCK):c.781G>A (p.Gly261Arg) rs104894008
NM_000162.5(GCK):c.793G>T (p.Glu265Ter) rs104894011
NM_000162.5(GCK):c.835G>T (p.Glu279Ter) rs104894005
NM_000162.5(GCK):c.895G>C (p.Gly299Arg) rs104894009

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