ClinVar Miner

List of variants studied for Maturity-onset diabetes of the young type 2 by Translational Genomics Laboratory, University of Maryland School of Medicine

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Total variants: 9
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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.787T>C (p.Ser263Pro) rs193922331 0.00001
NM_000162.5(GCK):c.1113C>A (p.Cys371Ter) rs556581174
NM_000162.5(GCK):c.113A>C (p.Gln38Pro) rs1064794268
NM_000162.5(GCK):c.1253+2T>A rs1057524902
NM_000162.5(GCK):c.184G>A (p.Val62Met) rs1064793998
NM_000162.5(GCK):c.680-1G>A rs1057524905
NM_000162.5(GCK):c.718A>G (p.Asn240Asp) rs1562715574
NM_000162.5(GCK):c.748C>T (p.Arg250Cys) rs1057524904

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