List of variants 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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Total variants: 12

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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.127C>T (p.Arg43Cys)	rs1486280029
NM_000162.5(GCK):c.130G>A (p.Gly44Ser)	rs267601516
NM_000162.5(GCK):c.184G>A (p.Val62Met)	rs1064793998
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.748C>T (p.Arg250Cys)	rs1057524904
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)
NM_000162.5(GCK):c.863+1G>A	rs1376796469

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