ClinVar Miner

List of variants reported as pathogenic for Maturity onset diabetes mellitus in young by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 70
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_175914.5(HNF4A):c.340C>T (p.Arg114Trp) rs137853336 0.00006
NM_000162.5(GCK):c.106C>T (p.Arg36Trp) rs762263694 0.00003
NM_000162.5(GCK):c.571C>T (p.Arg191Trp) rs1085307455 0.00001
NM_000162.5(GCK):c.70C>T (p.Gln24Ter) rs1281712444 0.00001
NM_175914.5(HNF4A):c.322G>A (p.Val108Ile) rs377476335 0.00001
NM_000162.5(GCK):c.1003del (p.Val335fs) rs193922254
NM_000162.5(GCK):c.1007C>A (p.Ser336Ter)
NM_000162.5(GCK):c.1077del (p.Ser360fs)
NM_000162.5(GCK):c.1141_1142del (p.Met381fs)
NM_000162.5(GCK):c.1156del (p.Leu386fs)
NM_000162.5(GCK):c.1253+1G>C
NM_000162.5(GCK):c.1295_1297delinsGCCG (p.Pro432fs)
NM_000162.5(GCK):c.1339C>G (p.Arg447Gly) rs193922281
NM_000162.5(GCK):c.151G>T (p.Glu51Ter)
NM_000162.5(GCK):c.183C>A (p.Tyr61Ter) rs780612692
NM_000162.5(GCK):c.295del (p.Trp99fs) rs1554335752
NM_000162.5(GCK):c.364-1G>A rs1057521094
NM_000162.5(GCK):c.393del (p.Asp132fs) rs193922295
NM_000162.5(GCK):c.445dup (p.Thr149fs)
NM_000162.5(GCK):c.483+1G>A
NM_000162.5(GCK):c.544G>A (p.Val182Met) rs587780345
NM_000162.5(GCK):c.556C>T (p.Arg186Ter) rs104894006
NM_000162.5(GCK):c.568A>T (p.Lys190Ter)
NM_000162.5(GCK):c.572G>A (p.Arg191Gln) rs886042610
NM_000162.5(GCK):c.579+1G>A
NM_000162.5(GCK):c.608T>C (p.Val203Ala) rs1562717053
NM_000162.5(GCK):c.645C>A (p.Tyr215Ter) rs144723656
NM_000162.5(GCK):c.656del (p.Gln219fs)
NM_000162.5(GCK):c.660C>A (p.Cys220Ter) rs142952813
NM_000162.5(GCK):c.661G>A (p.Glu221Lys) rs193922317
NM_000162.5(GCK):c.667G>A (p.Gly223Ser) rs1360415315
NM_000162.5(GCK):c.679+1G>A rs2128821468
NM_000162.5(GCK):c.683C>T (p.Thr228Met) rs80356655
NM_000162.5(GCK):c.695C>A (p.Ala232Asp)
NM_000162.5(GCK):c.766G>A (p.Glu256Lys) rs769268803
NM_000162.5(GCK):c.766G>T (p.Glu256Ter)
NM_000162.5(GCK):c.781G>A (p.Gly261Arg) rs104894008
NM_000162.5(GCK):c.814G>T (p.Glu272Ter)
NM_000162.5(GCK):c.867T>A (p.Tyr289Ter) rs1192394824
NM_000162.5(GCK):c.905del (p.Val302fs)
NM_000162.5(GCK):c.962_963dup (p.Glu322fs)
NM_000162.5(GCK):c.982G>T (p.Gly328Ter)
NM_000458.4(HNF1B):c.1014del (p.Gln338fs)
NM_000458.4(HNF1B):c.1282C>T (p.Gln428Ter) rs2032692897
NM_000458.4(HNF1B):c.541C>T (p.Arg181Ter)
NM_000458.4(HNF1B):c.544C>T (p.Gln182Ter)
NM_000545.8(HNF1A):c.1136_1137del (p.Pro379fs) rs1593060890
NM_000545.8(HNF1A):c.1137del (p.Val380fs) rs1555212248
NM_000545.8(HNF1A):c.130del (p.Leu44fs) rs193922578
NM_000545.8(HNF1A):c.1330_1331del (p.Gln444fs) rs776793516
NM_000545.8(HNF1A):c.150C>A (p.Cys50Ter)
NM_000545.8(HNF1A):c.373C>T (p.Gln125Ter)
NM_000545.8(HNF1A):c.478del (p.Ala160fs)
NM_000545.8(HNF1A):c.511C>T (p.Arg171Ter) rs1057520291
NM_000545.8(HNF1A):c.526+1G>T
NM_000545.8(HNF1A):c.526C>T (p.Gln176Ter) rs754728827
NM_000545.8(HNF1A):c.52G>T (p.Glu18Ter) rs1876084046
NM_000545.8(HNF1A):c.685C>T (p.Arg229Ter) rs769086289
NM_000545.8(HNF1A):c.788G>A (p.Arg263His) rs1057520504
NM_000545.8(HNF1A):c.811C>T (p.Arg271Trp) rs886039386
NM_000545.8(HNF1A):c.814C>T (p.Arg272Cys) rs1555212014
NM_000545.8(HNF1A):c.815G>A (p.Arg272His) rs137853238
NM_000545.8(HNF1A):c.830del (p.Phe277fs)
NM_000545.8(HNF1A):c.864del (p.Pro291fs) rs762703502
NM_000545.8(HNF1A):c.864delinsCC (p.Gly292fs) rs1593058932
NM_000545.8(HNF1A):c.872dup (p.Gly292fs) rs587776825
NM_175914.5(HNF4A):c.187C>T (p.Arg63Trp) rs587777732
NM_175914.5(HNF4A):c.498T>A (p.Cys166Ter) rs1555815393
NM_175914.5(HNF4A):c.724del (p.Val242fs) rs1555816642
NM_175914.5(HNF4A):c.981G>A (p.Trp327Ter)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.