List of variants reported as pathogenic for Hyperinsulinism due to glucokinase deficiency

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000162.5(GCK):c.1165G>C (p.Val389Leu)	rs1350717554
NM_000162.5(GCK):c.1358CGG[3] (p.Ala454dup)	rs1554334433
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.271G>Y (p.Val91Leu)
NM_000162.5(GCK):c.641A>G (p.Tyr214Cys)	rs104894015
NM_000162.5(GCK):c.683C>T (p.Thr228Met)	rs80356655

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