ClinVar Miner

List of variants reported as pathogenic for Maturity-onset diabetes of the young type 2 by Genetic Services Laboratory, University of Chicago

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000162.5(GCK):c.106C>T (p.Arg36Trp) rs762263694 0.00003
NM_000162.5(GCK):c.676G>A (p.Val226Met) rs148311934 0.00001
NM_000162.5(GCK):c.295del (p.Trp99fs) rs1554335752
NM_000162.5(GCK):c.317_333del (p.Gln106fs) rs797045595
NM_000162.5(GCK):c.667G>A (p.Gly223Ser) rs1360415315
NM_000162.5(GCK):c.678_679+2del rs1554335391
NM_000162.5(GCK):c.775G>A (p.Ala259Thr) rs1375656631
NM_000162.5(GCK):c.941T>C (p.Leu314Pro) rs1554334886

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