ClinVar Miner

List of variants in gene GCK reported as benign for Hyperinsulinism due to glucokinase deficiency

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000162.5(GCK):c.1253+8C>T rs2908274 0.34109
NM_000162.5(GCK):c.*332G>A rs13306388 0.18894
NM_000162.5(GCK):c.-84C>G rs13306391 0.06548
NM_000162.5(GCK):c.*477C>T rs2908275 0.06179
NM_000162.5(GCK):c.*797C>T rs2908276 0.01885
NM_000162.5(GCK):c.213C>T (p.Val71=) rs143128547 0.00014
NM_000162.5(GCK):c.-217C>G rs73691419
NM_000162.5(GCK):c.-267G>T rs59914952

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