ClinVar Miner

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

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_000162.5(GCK):c.571C>T (p.Arg191Trp) rs1085307455 0.00001
NM_000352.6(ABCC8):c.4136G>A (p.Arg1379His) rs193922401 0.00001
NM_000545.8(HNF1A):c.1136C>G (p.Pro379Arg) rs371717826 0.00001
NM_000545.8(HNF1A):c.1340C>T (p.Pro447Leu) rs137853236 0.00001
NC_000017.10:g.(?_36046433)_(36105070_?)del
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
NM_000352.6(ABCC8):c.4544C>T (p.Thr1515Met) rs769989185
NM_000458.4(HNF1B):c.826C>T (p.Arg276Ter)
NM_000545.5(HNF1A):c.598C>T (p.Arg200Trp) rs193922598
NM_000545.8(HNF1A):c.130del (p.Leu44fs) rs193922578
NM_000545.8(HNF1A):c.1417C>T (p.Gln473Ter)
NM_000545.8(HNF1A):c.1502-6G>A rs1458430820
NM_000545.8(HNF1A):c.320T>G (p.Leu107Arg) rs2135820413
NM_000545.8(HNF1A):c.475C>T (p.Arg159Trp) rs765432081
NM_000545.8(HNF1A):c.526+1G>A rs1364708195
NM_000545.8(HNF1A):c.527-1G>A rs1555211904
NM_000545.8(HNF1A):c.544C>T (p.Gln182Ter)
NM_000545.8(HNF1A):c.607C>T (p.Arg203Cys) rs1180119907
NM_000545.8(HNF1A):c.620G>A (p.Gly207Asp) rs1555211922
NM_000545.8(HNF1A):c.685C>T (p.Arg229Ter) rs769086289
NM_000545.8(HNF1A):c.779C>T (p.Thr260Met) rs886039544
NM_000545.8(HNF1A):c.811C>T (p.Arg271Trp) rs886039386
NM_000545.8(HNF1A):c.838A>T (p.Lys280Ter)
NM_000545.8(HNF1A):c.864delinsCC (p.Gly292fs) rs1593058932
NM_000545.8(HNF1A):c.872dup (p.Gly292fs) rs587776825
NM_000545.8(HNF1A):c.998_1013del (p.Val333fs)
NM_175914.5(HNF4A):c.335G>A (p.Arg112Gln) rs1085307913
NM_175914.5(HNF4A):c.734G>A (p.Arg245His)
NM_175914.5(HNF4A):c.869G>A (p.Arg290His) rs1191912908
NM_175914.5(HNF4A):c.931C>T (p.Arg311Cys) rs193922480
NM_175914.5(HNF4A):c.956T>C (p.Leu319Pro) rs2063786151

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