ClinVar Miner

List of variants reported as pathogenic for monogenic diabetes by Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic

Included ClinVar conditions (61):
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ClinVar version:
Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_000162.5(GCK):c.70C>T (p.Gln24Ter) rs1281712444 0.00001
NM_000545.8(HNF1A):c.1340C>T (p.Pro447Leu) rs137853236 0.00001
NM_000545.8(HNF1A):c.599G>A (p.Arg200Gln) rs893256143 0.00001
NM_000545.8(HNF1A):c.608G>A (p.Arg203His) rs587780357 0.00001
NM_000545.8(HNF1A):c.685C>A (p.Arg229=) rs769086289 0.00001
NM_000162.5(GCK):c.1054del (p.Ile351_Leu352insTer) rs1562713041
NM_000162.5(GCK):c.112C>T (p.Gln38Ter) rs878853246
NM_000162.5(GCK):c.1146C>A (p.Cys382Ter) rs1583591809
NM_000162.5(GCK):c.1327G>T (p.Glu443Ter) rs1562711915
NM_000162.5(GCK):c.25G>T (p.Glu9Ter) rs1131691483
NM_000162.5(GCK):c.286G>T (p.Glu96Ter) rs2096281776
NM_000162.5(GCK):c.304A>T (p.Lys102Ter) rs193922291
NM_000162.5(GCK):c.316C>T (p.Gln106Ter) rs2096281702
NM_000162.5(GCK):c.387C>A (p.Cys129Ter) rs1583601365
NM_000162.5(GCK):c.76C>T (p.Gln26Ter) rs193922329
NM_000162.5(GCK):c.770G>A (p.Trp257Ter) rs1562715426
NM_000162.5(GCK):c.819T>A (p.Tyr273Ter) rs1562715296
NM_000458.4(HNF1B):c.1282C>T (p.Gln428Ter) rs2032692897
NM_000458.4(HNF1B):c.1561C>T (p.Gln521Ter)
NM_000458.4(HNF1B):c.187del (p.His63fs) rs2034117925
NM_000458.4(HNF1B):c.221T>G (p.Leu74Trp) rs193922486
NM_000458.4(HNF1B):c.230_233del (p.Asp77fs) rs1555833071
NM_000458.4(HNF1B):c.241G>T (p.Glu81Ter) rs2034113963
NM_000458.4(HNF1B):c.324_340del (p.Glu109fs) rs1598854261
NM_000458.4(HNF1B):c.481A>T (p.Lys161Ter) rs2033928772
NM_000458.4(HNF1B):c.495_496del (p.Ala166fs) rs2033927631
NM_000458.4(HNF1B):c.499_504delinsCCCCT (p.Ala167fs) rs1598848672
NM_000458.4(HNF1B):c.516C>T (p.Tyr172=) rs764561297
NM_000458.4(HNF1B):c.892A>G (p.Asn298Asp) rs1598841002
NM_000458.4(HNF1B):c.896G>A (p.Trp299Ter) rs1598840996
NM_000545.8(HNF1A):c.1022del (p.Pro340_Leu341insTer) rs1877096238
NM_000545.8(HNF1A):c.1193_1195delinsGGT (p.Gln398_Gln399delinsArgTer) rs1593060966
NM_000545.8(HNF1A):c.1378C>T (p.Gln460Ter) rs1555212363
NM_000545.8(HNF1A):c.1396C>T (p.Gln466Ter) rs1877175078
NM_000545.8(HNF1A):c.1483C>T (p.Gln495Ter) rs1565887211
NM_000545.8(HNF1A):c.1489C>T (p.Gln497Ter) rs1555212396
NM_000545.8(HNF1A):c.1516_1624-30del rs1592897526
NM_000545.8(HNF1A):c.1531C>G (p.Gln511Glu) rs551484245
NM_000545.8(HNF1A):c.160C>G (p.Arg54Gly) rs766956862
NM_000545.8(HNF1A):c.19C>T (p.Gln7Ter) rs1566092307
NM_000545.8(HNF1A):c.1A>G (p.Met1Val) rs193922592
NM_000545.8(HNF1A):c.370C>T (p.Gln124Ter) rs1565883507
NM_000545.8(HNF1A):c.388C>T (p.Gln130Ter) rs1876669962
NM_000545.8(HNF1A):c.391C>T (p.Arg131Trp) rs137853244
NM_000545.8(HNF1A):c.392G>A (p.Arg131Gln) rs753998395
NM_000545.8(HNF1A):c.475C>T (p.Arg159Trp) rs765432081
NM_000545.8(HNF1A):c.476G>A (p.Arg159Gln) rs1172328722
NM_000545.8(HNF1A):c.494G>A (p.Trp165Ter) rs1555211436
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.58G>A (p.Gly20Arg) rs1249563793
NM_000545.8(HNF1A):c.815G>A (p.Arg272His) rs137853238
NM_000545.8(HNF1A):c.872dup (p.Gly292fs) rs587776825
NM_000545.8(HNF1A):c.956-1G>A rs1565886545
NM_175914.5(HNF4A):c.265C>T (p.Gln89Ter) rs1568724014
NM_175914.5(HNF4A):c.514C>T (p.Gln172Ter) rs1555815396

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