ClinVar Miner

List of variants reported as pathogenic for Monogenic diabetes by Translational Genomics Laboratory, University of Maryland School of Medicine

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_005912.3(MC4R):c.466C>T (p.Gln156Ter) rs369841551 0.00001
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) rs11575937 0.00001
NM_000162.5(GCK):c.1016A>G (p.Glu339Gly) rs1057524903
NM_000162.5(GCK):c.1253+2T>A rs1057524902
NM_000162.5(GCK):c.680-1G>A rs1057524905
NM_000545.8(HNF1A):c.694dup (p.Leu232fs) rs1057524908
NM_000545.8(HNF1A):c.815G>A (p.Arg272His) rs137853238

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