List of variants in gene GCK reported as pathogenic for Type 2 diabetes mellitus; Hyperinsulinism due to glucokinase deficiency; Maturity-onset diabetes of the young type 2; Permanent neonatal diabetes mellitus 1

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000162.5(GCK):c.571C>T (p.Arg191Trp)	rs1085307455	0.00001
NM_000162.5(GCK):c.676G>A (p.Val226Met)	rs148311934	0.00001
NM_000162.5(GCK):c.469G>A (p.Glu157Lys)	rs1554335570
NM_000162.5(GCK):c.608T>C (p.Val203Ala)	rs1562717053
NM_000162.5(GCK):c.790G>A (p.Gly264Ser)	rs193929373
NM_000162.5(GCK):c.793G>A (p.Glu265Lys)	rs104894011
NM_000162.5(GCK):c.800dup (p.Asp267fs)

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