ClinVar Miner

List of variants reported as pathogenic for Maturity-onset diabetes of the young type 2 by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 16
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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.1139A>C (p.His380Pro) rs2128819280
NM_000162.5(GCK):c.1178T>C (p.Met393Thr) rs2096271425
NM_000162.5(GCK):c.1340G>A (p.Arg447Gln) rs1131691416
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.491T>C (p.Leu164Pro) rs2096278847
NM_000162.5(GCK):c.533G>A (p.Gly178Glu) rs886039380
NM_000162.5(GCK):c.556C>T (p.Arg186Ter) rs104894006
NM_000162.5(GCK):c.645C>G (p.Tyr215Ter) rs144723656
NM_000162.5(GCK):c.660C>A (p.Cys220Ter) rs142952813
NM_000162.5(GCK):c.686del (p.Gly229fs) rs1554335164
NM_000162.5(GCK):c.770G>A (p.Trp257Ter) rs1562715426
NM_000162.5(GCK):c.864-1G>A rs1167675604
NM_000162.5(GCK):c.944T>A (p.Leu315His) rs193922338
NM_000162.5(GCK):c.971T>C (p.Leu324Pro) rs193922341

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