ClinVar Miner

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

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000162.5(GCK):c.1148C>T (p.Ser383Leu) rs777870079
NM_000162.5(GCK):c.449T>C (p.Phe150Ser) rs193922297
NM_000162.5(GCK):c.554T>C (p.Leu185Pro)
NM_000162.5(GCK):c.601G>T (p.Ala201Ser) rs794727775
NM_000162.5(GCK):c.781G>A (p.Gly261Arg) rs104894008

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