ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_000162.5(GCK):c.1112G>T (p.Cys371Phe) rs587780343
NM_000162.5(GCK):c.1148C>T (p.Ser383Leu) rs777870079
NM_000162.5(GCK):c.1173C>A (p.Asn391Lys) rs1554334579
NM_000162.5(GCK):c.1322C>T (p.Ser441Leu) rs1286804191
NM_000162.5(GCK):c.364C>A (p.Leu122Ile) rs1554335616
NM_000162.5(GCK):c.370G>A (p.Asp124Asn) rs759072800
NM_000162.5(GCK):c.616A>C (p.Thr206Pro) rs587780346
NM_000162.5(GCK):c.787T>C (p.Ser263Pro) rs193922331
NM_000162.5(GCK):c.824G>T (p.Arg275Leu) rs767565869
NM_000162.5(GCK):c.908G>A (p.Arg303Gln) rs1312678560
NM_000162.5(GCK):c.98T>A (p.Val33Glu) rs1554335954

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