List of variants reported for Maturity-onset diabetes of the young type 2 by Genetics and Molecular Pathology, SA Pathology

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000162.5(GCK):c.1148C>T (p.Ser383Leu)	rs777870079
NM_000162.5(GCK):c.1174C>T (p.Arg392Cys)	rs1167124132
NM_000162.5(GCK):c.397T>G (p.Phe133Val)
NM_000162.5(GCK):c.449T>C (p.Phe150Ser)	rs193922297
NM_000162.5(GCK):c.554T>C (p.Leu185Pro)
NM_000162.5(GCK):c.580-3C>A
NM_000162.5(GCK):c.601G>T (p.Ala201Ser)	rs794727775
NM_000162.5(GCK):c.641dup (p.Tyr214Ter)	rs2128821490
NM_000162.5(GCK):c.781G>A (p.Gly261Arg)	rs104894008
NM_000162.5(GCK):c.878T>C (p.Ile293Thr)	rs2128820046
NM_000162.5(GCK):c.940del (p.Leu314fs)

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