ClinVar Miner

List of variants reported as uncertain significance for maturity-onset diabetes of the young by Ambry Genetics

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 92
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HGVS dbSNP gnomAD frequency
NM_000545.8(HNF1A):c.*5G>A rs112986697 0.00237
NM_175914.5(HNF4A):c.427-20C>T rs184217112 0.00058
NM_000458.4(HNF1B):c.1108G>A (p.Gly370Ser) rs113042313 0.00046
NM_000545.8(HNF1A):c.1541A>G (p.His514Arg) rs202039659 0.00027
NM_000458.4(HNF1B):c.1657C>A (p.Pro553Thr) rs147798914 0.00016
NM_000162.5(GCK):c.666C>T (p.Val222=) rs193922318 0.00011
NM_000209.4(PDX1):c.28G>A (p.Ala10Thr) rs936474667 0.00010
NM_000458.4(HNF1B):c.1654-4G>A rs193922485 0.00005
NM_000458.4(HNF1B):c.780G>C (p.Glu260Asp) rs536638039 0.00005
NM_175914.5(HNF4A):c.7A>C (p.Ser3Arg) rs779464983 0.00003
NM_000209.4(PDX1):c.274C>T (p.Leu92Phe) rs1179554814 0.00002
NM_000458.4(HNF1B):c.1087T>C (p.Ser363Pro) rs2032902697 0.00001
NM_000458.4(HNF1B):c.34C>T (p.Leu12Phe) rs1285239018 0.00001
NM_000458.4(HNF1B):c.988C>T (p.Leu330Phe) rs763078496 0.00001
NM_000545.8(HNF1A):c.1012G>A (p.Gly338Ser) rs773847824 0.00001
NM_000545.8(HNF1A):c.1400C>T (p.Pro467Leu) rs764483607 0.00001
NM_000545.8(HNF1A):c.1556C>T (p.Pro519Leu) rs749673816 0.00001
NM_000545.8(HNF1A):c.1855G>A (p.Glu619Lys) rs1316999782 0.00001
NM_175914.5(HNF4A):c.481A>G (p.Ser161Gly) rs779555087 0.00001
NM_175914.5(HNF4A):c.710C>T (p.Ala237Val) rs145542196 0.00001
NM_175914.5(HNF4A):c.844G>A (p.Asp282Asn) rs145902391 0.00001
NM_000162.5(GCK):c.1087G>A (p.Asp363Asn) rs1064793134
NM_000162.5(GCK):c.1129C>A (p.Arg377Ser) rs1471992838
NM_000162.5(GCK):c.1130G>A (p.Arg377His) rs193922264
NM_000162.5(GCK):c.1139A>C (p.His380Pro) rs2128819280
NM_000162.5(GCK):c.1150G>A (p.Ala384Thr) rs1376620210
NM_000162.5(GCK):c.1151C>A (p.Ala384Glu) rs1583591747
NM_000162.5(GCK):c.1163G>A (p.Gly388Asp) rs2096271482
NM_000162.5(GCK):c.1207C>G (p.Arg403Gly) rs193922271
NM_000162.5(GCK):c.1264C>T (p.Arg422Trp) rs1208845035
NM_000162.5(GCK):c.1288C>G (p.Leu430Val) rs193922276
NM_000162.5(GCK):c.1310C>G (p.Thr437Ser) rs1185622190
NM_000162.5(GCK):c.1348G>T (p.Ala450Ser) rs2484492011
NM_000162.5(GCK):c.179C>T (p.Thr60Ile) rs747783371
NM_000162.5(GCK):c.458C>A (p.Pro153His) rs2484529426
NM_000162.5(GCK):c.463A>G (p.Arg155Gly) rs193922301
NM_000162.5(GCK):c.478G>C (p.Asp160His) rs1554335566
NM_000162.5(GCK):c.524G>A (p.Gly175Glu) rs2128821624
NM_000162.5(GCK):c.524G>C (p.Gly175Ala) rs2128821624
NM_000162.5(GCK):c.524G>T (p.Gly175Val) rs2128821624
NM_000162.5(GCK):c.526G>A (p.Ala176Thr) rs2096278790
NM_000162.5(GCK):c.535A>G (p.Asn179Asp) rs2484524121
NM_000162.5(GCK):c.601G>T (p.Ala201Ser) rs794727775
NM_000162.5(GCK):c.630G>T (p.Met210Ile) rs193922313
NM_000162.5(GCK):c.675C>G (p.Ile225Met) rs772754004
NM_000162.5(GCK):c.680G>A (p.Gly227Asp) rs2128820681
NM_000162.5(GCK):c.682A>G (p.Thr228Ala) rs1332966015
NM_000162.5(GCK):c.730G>A (p.Val244Met) rs1240035630
NM_000162.5(GCK):c.737G>C (p.Gly246Ala) rs1583596522
NM_000162.5(GCK):c.760A>C (p.Asn254His) rs193922327
NM_000162.5(GCK):c.818A>G (p.Tyr273Cys) rs1182603872
NM_000162.5(GCK):c.871A>C (p.Lys291Gln) rs193922335
NM_000162.5(GCK):c.917T>C (p.Leu306Pro) rs193922337
NM_000162.5(GCK):c.941T>C (p.Leu314Pro) rs1554334886
NM_000162.5(GCK):c.98T>A (p.Val33Glu) rs1554335954
NM_000209.4(PDX1):c.190G>T (p.Asp64Tyr) rs1298541493
NM_000209.4(PDX1):c.569T>C (p.Ile190Thr) rs2500206458
NM_000209.4(PDX1):c.677A>C (p.Asp226Ala) rs1175289727
NM_000458.4(HNF1B):c.1006C>G (p.His336Asp) rs138986885
NM_000458.4(HNF1B):c.1008C>G (p.His336Gln) rs150268130
NM_000458.4(HNF1B):c.1062G>T (p.Gln354His) rs202109472
NM_000458.4(HNF1B):c.1127C>T (p.Thr376Ile) rs749391290
NM_000458.4(HNF1B):c.1381A>G (p.Ser461Gly) rs2511700895
NM_000458.4(HNF1B):c.1501A>G (p.Met501Val) rs1328383331
NM_000458.4(HNF1B):c.157G>T (p.Gly53Trp) rs2034119580
NM_000458.4(HNF1B):c.271A>G (p.Ile91Val) rs1204310134
NM_000458.4(HNF1B):c.311C>T (p.Ala104Val) rs2511849835
NM_000458.4(HNF1B):c.712T>A (p.Trp238Arg) rs2033751993
NM_000458.4(HNF1B):c.907C>T (p.Arg303Cys) rs2033692513
NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala) rs754729248
NM_000545.8(HNF1A):c.1380_1406del (p.Gln460_Leu468del) rs544842497
NM_000545.8(HNF1A):c.1424C>T (p.Pro475Leu) rs193922580
NM_000545.8(HNF1A):c.155_156delinsCT (p.Gly52Ala) rs587778393
NM_000545.8(HNF1A):c.1623G>C (p.Gln541His) rs1877301961
NM_000545.8(HNF1A):c.1854C>G (p.Ile618Met) rs193922591
NM_000545.8(HNF1A):c.1869del (p.Thr624fs) rs2500014411
NM_000545.8(HNF1A):c.205G>A (p.Gly69Ser) rs2499973790
NM_000545.8(HNF1A):c.281C>T (p.Pro94Leu) rs193922593
NM_000545.8(HNF1A):c.286G>A (p.Glu96Lys) rs1319520178
NM_000545.8(HNF1A):c.292G>A (p.Ala98Thr) rs1311539397
NM_000545.8(HNF1A):c.358A>G (p.Lys120Glu) rs2499987472
NM_000545.8(HNF1A):c.431T>C (p.Leu144Pro) rs2135832696
NM_000545.8(HNF1A):c.479C>T (p.Ala160Val) rs2135832814
NM_000545.8(HNF1A):c.490A>C (p.Thr164Pro) rs772597940
NM_000545.8(HNF1A):c.496T>C (p.Tyr166His) rs2499987928
NM_000545.8(HNF1A):c.737T>C (p.Val246Ala) rs2135841238
NM_175914.5(HNF4A):c.101T>A (p.Val34Asp) rs2063496235
NM_175914.5(HNF4A):c.221G>A (p.Cys74Tyr) rs1555813342
NM_175914.5(HNF4A):c.225-21A>G rs2515650510
NM_175914.5(HNF4A):c.305G>A (p.Gly102Asp) rs1396612785
NM_175914.5(HNF4A):c.502T>C (p.Ser168Pro) rs2515679906
NM_175914.5(HNF4A):c.691C>T (p.Arg231Trp) rs376013528

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