ClinVar Miner

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

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Total variants: 91
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HGVS dbSNP gnomAD frequency
NM_000545.8(HNF1A):c.*5G>A rs112986697 0.00237
NM_000209.4(PDX1):c.211C>A (p.Pro71Thr) rs564129447 0.00041
NM_000545.8(HNF1A):c.1541A>G (p.His514Arg) rs202039659 0.00028
NM_000545.8(HNF1A):c.1108-4G>A rs372892932 0.00020
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_175914.5(HNF4A):c.427-20C>T rs184217112 0.00008
NM_000458.4(HNF1B):c.1654-4G>A rs193922485 0.00005
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.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)
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)
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)
NM_000162.5(GCK):c.1288C>G (p.Leu430Val)
NM_000162.5(GCK):c.1310C>G (p.Thr437Ser) rs1185622190
NM_000162.5(GCK):c.1348G>T (p.Ala450Ser)
NM_000162.5(GCK):c.179C>T (p.Thr60Ile) rs747783371
NM_000162.5(GCK):c.458C>A (p.Pro153His)
NM_000162.5(GCK):c.463A>G (p.Arg155Gly) rs193922301
NM_000162.5(GCK):c.478G>C (p.Asp160His)
NM_000162.5(GCK):c.524G>A (p.Gly175Glu)
NM_000162.5(GCK):c.524G>C (p.Gly175Ala) rs2128821624
NM_000162.5(GCK):c.524G>T (p.Gly175Val)
NM_000162.5(GCK):c.526G>A (p.Ala176Thr)
NM_000162.5(GCK):c.535A>G (p.Asn179Asp)
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)
NM_000162.5(GCK):c.871A>C (p.Lys291Gln)
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)
NM_000209.4(PDX1):c.569T>C (p.Ile190Thr)
NM_000209.4(PDX1):c.677A>C (p.Asp226Ala)
NM_000458.4(HNF1B):c.1006C>G (p.His336Asp)
NM_000458.4(HNF1B):c.1008C>G (p.His336Gln)
NM_000458.4(HNF1B):c.1062G>T (p.Gln354His)
NM_000458.4(HNF1B):c.1087T>C (p.Ser363Pro)
NM_000458.4(HNF1B):c.1108G>A (p.Gly370Ser)
NM_000458.4(HNF1B):c.1127C>T (p.Thr376Ile)
NM_000458.4(HNF1B):c.1381A>G (p.Ser461Gly)
NM_000458.4(HNF1B):c.1501A>G (p.Met501Val)
NM_000458.4(HNF1B):c.157G>T (p.Gly53Trp) rs2034119580
NM_000458.4(HNF1B):c.1657C>A (p.Pro553Thr)
NM_000458.4(HNF1B):c.271A>G (p.Ile91Val)
NM_000458.4(HNF1B):c.311C>T (p.Ala104Val)
NM_000458.4(HNF1B):c.34C>T (p.Leu12Phe)
NM_000458.4(HNF1B):c.712T>A (p.Trp238Arg)
NM_000458.4(HNF1B):c.780G>C (p.Glu260Asp)
NM_000458.4(HNF1B):c.907C>T (p.Arg303Cys)
NM_000458.4(HNF1B):c.988C>T (p.Leu330Phe)
NM_000545.8(HNF1A):c.1012G>A (p.Gly338Ser)
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)
NM_000545.8(HNF1A):c.1854C>G (p.Ile618Met) rs193922591
NM_000545.8(HNF1A):c.1869del (p.Thr624fs)
NM_000545.8(HNF1A):c.205G>A (p.Gly69Ser)
NM_000545.8(HNF1A):c.281C>T (p.Pro94Leu) rs193922593
NM_000545.8(HNF1A):c.286G>A (p.Glu96Lys)
NM_000545.8(HNF1A):c.292G>A (p.Ala98Thr)
NM_000545.8(HNF1A):c.358A>G (p.Lys120Glu)
NM_000545.8(HNF1A):c.431T>C (p.Leu144Pro)
NM_000545.8(HNF1A):c.479C>T (p.Ala160Val)
NM_000545.8(HNF1A):c.490A>C (p.Thr164Pro) rs772597940
NM_000545.8(HNF1A):c.496T>C (p.Tyr166His)
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.225-21A>G
NM_175914.5(HNF4A):c.305G>A (p.Gly102Asp)
NM_175914.5(HNF4A):c.502T>C (p.Ser168Pro)
NM_175914.5(HNF4A):c.691C>T (p.Arg231Trp) rs376013528
NM_175914.5(HNF4A):c.710C>T (p.Ala237Val)
NM_175914.5(HNF4A):c.7A>C (p.Ser3Arg)

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