ClinVar Miner

List of variants reported as likely pathogenic for Monogenic diabetes

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Total variants: 12
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NM_000162.5(GCK):c.122T>C (p.Met41Thr) rs1057524906
NM_000162.5(GCK):c.1240A>G (p.Lys414Glu) rs193922272
NM_000162.5(GCK):c.128G>A (p.Arg43His) rs764232985
NM_000162.5(GCK):c.1344del (p.Ala449fs) rs1057524901
NM_000162.5(GCK):c.1361C>A (p.Ala454Glu) rs1057524900
NM_000162.5(GCK):c.214G>A (p.Gly72Arg) rs193922289
NM_000162.5(GCK):c.682A>G (p.Thr228Ala) rs1332966015
NM_000162.5(GCK):c.748C>T (p.Arg250Cys) rs1057524904
NM_000207.3(INS):c.278A>G (p.Glu93Gly) rs1057524907
NM_000352.6(ABCC8):c.4135C>T (p.Arg1379Cys) rs137852673
NM_000352.6(ABCC8):c.4136G>A (p.Arg1379His) rs193922401
NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp) rs267607555

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