ClinVar Miner

List of variants reported as pathogenic for monogenic diabetes by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (61):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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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_000352.6(ABCC8):c.3544C>T (p.Arg1182Trp) rs797045209 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
NM_000207.3(INS):c.188-31G>A rs797045623
NM_000207.3(INS):c.265C>T (p.Arg89Cys) rs80356669
NM_000209.4(PDX1):c.188del (p.Pro63fs) rs193929377
NM_000209.4(PDX1):c.533A>G (p.Glu178Gly) rs387906777
NM_000352.6(ABCC8):c.3545G>A (p.Arg1182Gln) rs193922400
NM_000352.6(ABCC8):c.3593C>T (p.Pro1198Leu) rs1554909277
NM_000352.6(ABCC8):c.4135C>T (p.Arg1379Cys) rs137852673
NM_000545.8(HNF1A):c.1137del (p.Val380fs) rs1555212248
NM_000545.8(HNF1A):c.1359del (p.Ser454fs) rs1555212359
NM_000545.8(HNF1A):c.864del (p.Pro291fs) rs762703502

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