ClinVar Miner

List of variants studied for Diabetes mellitus type 1; Type 1 diabetes mellitus 20; Maturity-onset diabetes of the young type 3; Type 2 diabetes mellitus; Hepatic adenomas, familial; Nonpapillary renal cell carcinoma

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Total variants: 146
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HGVS dbSNP gnomAD frequency
NM_000545.8(HNF1A):c.1720A>G (p.Ser574Gly) rs1169305 0.98610
NM_000545.8(HNF1A):c.326+6_326+10dup rs56158114 0.00415
NM_000545.8(HNF1A):c.1446C>T (p.Ser482=) rs147366495 0.00117
NM_000545.8(HNF1A):c.1323G>A (p.Thr441=) rs138996307 0.00081
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp) rs137853247 0.00076
NM_000545.8(HNF1A):c.1501+6C>T rs374306837 0.00035
NM_000545.8(HNF1A):c.1386C>T (p.Val462=) rs143015301 0.00021
NM_000545.8(HNF1A):c.1108-4G>A rs372892932 0.00020
NM_000545.8(HNF1A):c.1377G>A (p.Leu459=) rs118028009 0.00020
NM_000545.8(HNF1A):c.524A>G (p.Gln175Arg) rs147400498 0.00018
NM_000545.8(HNF1A):c.1756G>A (p.Ala586Thr) rs373857078 0.00017
NM_000545.8(HNF1A):c.716C>T (p.Ala239Val) rs587778397 0.00016
NC_000012.12:g.120978511A>G rs756136537 0.00015
NM_000545.8(HNF1A):c.1706G>A (p.Ser569Asn) rs752219487 0.00011
NM_000545.8(HNF1A):c.341G>A (p.Arg114His) rs139016696 0.00007
NM_000545.8(HNF1A):c.542G>C (p.Gly181Ala) rs773315874 0.00007
NM_000545.8(HNF1A):c.1071G>A (p.Glu357=) rs376279459 0.00006
NM_000545.8(HNF1A):c.1405C>T (p.His469Tyr) rs201811844 0.00006
NM_000545.8(HNF1A):c.1849G>A (p.Val617Ile) rs146855738 0.00006
NM_000545.8(HNF1A):c.245C>T (p.Thr82Met) rs568123980 0.00006
NM_000545.8(HNF1A):c.1015G>A (p.Gly339Ser) rs766790596 0.00004
NM_000545.8(HNF1A):c.150C>T (p.Cys50=) rs193922583 0.00004
NM_000545.8(HNF1A):c.236A>T (p.Glu79Val) rs143753579 0.00004
NM_000545.8(HNF1A):c.481G>A (p.Ala161Thr) rs201095611 0.00004
NM_000545.8(HNF1A):c.713+13G>A rs755961371 0.00004
NM_000545.8(HNF1A):c.962G>A (p.Arg321His) rs751761766 0.00004
NM_000545.8(HNF1A):c.1322C>A (p.Thr441Lys) rs371544082 0.00003
NM_000545.8(HNF1A):c.139G>C (p.Gly47Arg) rs373180062 0.00003
NM_000545.8(HNF1A):c.467C>T (p.Thr156Met) rs150513055 0.00003
NM_000545.8(HNF1A):c.499G>A (p.Val167Ile) rs371759652 0.00003
NM_000545.8(HNF1A):c.827C>G (p.Ala276Gly) rs137853245 0.00003
NM_000545.8(HNF1A):c.125G>A (p.Gly42Asp) rs1261968643 0.00002
NM_000545.8(HNF1A):c.1400C>T (p.Pro467Leu) rs764483607 0.00002
NM_000545.8(HNF1A):c.1504C>G (p.Leu502Val) rs924150546 0.00002
NM_000545.8(HNF1A):c.1576G>A (p.Asp526Asn) rs1315721381 0.00002
NM_000545.8(HNF1A):c.1745A>G (p.His582Arg) rs193922589 0.00002
NM_000545.8(HNF1A):c.1774T>C (p.Ser592Pro) rs1352126690 0.00002
NM_000545.8(HNF1A):c.29C>T (p.Thr10Met) rs774637975 0.00002
NM_000545.8(HNF1A):c.923C>T (p.Pro308Leu) rs754306821 0.00002
NM_000545.8(HNF1A):c.1030G>A (p.Val344Met) rs767616383 0.00001
NM_000545.8(HNF1A):c.1159C>T (p.His387Tyr) rs1403526456 0.00001
NM_000545.8(HNF1A):c.1340C>T (p.Pro447Leu) rs137853236 0.00001
NM_000545.8(HNF1A):c.140G>A (p.Gly47Glu) rs1391743259 0.00001
NM_000545.8(HNF1A):c.1513C>A (p.His505Asn) rs577078110 0.00001
NM_000545.8(HNF1A):c.1537A>T (p.Thr513Ser) rs753702603 0.00001
NM_000545.8(HNF1A):c.153C>T (p.Gly51=) rs761779651 0.00001
NM_000545.8(HNF1A):c.1555C>T (p.Pro519Ser) rs200639058 0.00001
NM_000545.8(HNF1A):c.1556C>T (p.Pro519Leu) rs749673816 0.00001
NM_000545.8(HNF1A):c.1573A>T (p.Thr525Ser) rs759717253 0.00001
NM_000545.8(HNF1A):c.1637A>C (p.Asp546Ala) rs984428675 0.00001
NM_000545.8(HNF1A):c.1769T>C (p.Val590Ala) rs928744634 0.00001
NM_000545.8(HNF1A):c.1778G>C (p.Ser593Thr) rs200120574 0.00001
NM_000545.8(HNF1A):c.1824C>G (p.Ser608Arg) rs1877445147 0.00001
NM_000545.8(HNF1A):c.257T>A (p.Leu86His) rs200442958 0.00001
NM_000545.8(HNF1A):c.340C>T (p.Arg114Cys) rs774996577 0.00001
NM_000545.8(HNF1A):c.685C>A (p.Arg229=) rs769086289 0.00001
NM_000545.8(HNF1A):c.713+14C>T rs193922601 0.00001
NM_000545.8(HNF1A):c.780G>A (p.Thr260=) rs749633685 0.00001
NM_000545.8(HNF1A):c.865C>A (p.Pro289Thr) rs765829022 0.00001
NM_000545.8(HNF1A):c.884C>T (p.Pro295Leu) rs747958319 0.00001
NM_000545.8(HNF1A):c.901G>A (p.Ala301Thr) rs555681479 0.00001
NM_000545.8(HNF1A):c.932C>A (p.Ala311Asp) rs757574765 0.00001
NM_000545.5(HNF1A):c.598C>T (p.Arg200Trp) rs193922598
NM_000545.8(HNF1A):c.-119G>A
NM_000545.8(HNF1A):c.-133_-128dup
NM_000545.8(HNF1A):c.-167TGGGGGT[3] rs538476099
NM_000545.8(HNF1A):c.-62C>G
NM_000545.8(HNF1A):c.-64_-55delinsGC
NM_000545.8(HNF1A):c.1036_1056dup (p.Ser352_Pro353insThrProLeuHisGlnValSer)
NM_000545.8(HNF1A):c.1107+6T>C
NM_000545.8(HNF1A):c.1107+9C>T
NM_000545.8(HNF1A):c.1107G>C (p.Leu369=)
NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala) rs754729248
NM_000545.8(HNF1A):c.1136C>A (p.Pro379His) rs371717826
NM_000545.8(HNF1A):c.1206C>A (p.Asn402Lys)
NM_000545.8(HNF1A):c.1309+16T>C
NM_000545.8(HNF1A):c.1310-2A>G rs2135847311
NM_000545.8(HNF1A):c.1322C>T (p.Thr441Met)
NM_000545.8(HNF1A):c.1361G>A (p.Ser454Asn)
NM_000545.8(HNF1A):c.1424C>T (p.Pro475Leu) rs193922580
NM_000545.8(HNF1A):c.1456C>T (p.Gln486Ter)
NM_000545.8(HNF1A):c.1469T>C (p.Met490Thr)
NM_000545.8(HNF1A):c.1474A>G (p.Thr492Ala)
NM_000545.8(HNF1A):c.1501+1G>A rs1131692182
NM_000545.8(HNF1A):c.1512C>A (p.Ser504Arg)
NM_000545.8(HNF1A):c.1526T>C (p.Val509Ala)
NM_000545.8(HNF1A):c.1544C>T (p.Thr515Met) rs745460046
NM_000545.8(HNF1A):c.154G>A (p.Gly52Ser)
NM_000545.8(HNF1A):c.1555_1556dup (p.Gln520fs)
NM_000545.8(HNF1A):c.1575_1576delinsA (p.Asp526fs)
NM_000545.8(HNF1A):c.1610C>T (p.Thr537Met) rs372624970
NM_000545.8(HNF1A):c.1668_1669delinsAT (p.His556_Thr557delinsGlnSer)
NM_000545.8(HNF1A):c.1715del (p.Pro572fs)
NM_000545.8(HNF1A):c.1717G>T (p.Ala573Ser)
NM_000545.8(HNF1A):c.1719_1720inv (p.Ser574Gly)
NM_000545.8(HNF1A):c.1720_1721delinsGA (p.Ser574Asp)
NM_000545.8(HNF1A):c.1720delinsGGCATCCAGCACCG (p.Ser574fs)
NM_000545.8(HNF1A):c.1727A>C (p.Gln576Pro) rs1877318918
NM_000545.8(HNF1A):c.1768+5G>A
NM_000545.8(HNF1A):c.1789C>T (p.Leu597=)
NM_000545.8(HNF1A):c.1810A>G (p.Ser604Gly)
NM_000545.8(HNF1A):c.1812C>G (p.Ser604Arg)
NM_000545.8(HNF1A):c.181C>T (p.Pro61Ser)
NM_000545.8(HNF1A):c.1825C>T (p.His609Tyr) rs2135854619
NM_000545.8(HNF1A):c.1838C>T (p.Ser613Phe)
NM_000545.8(HNF1A):c.1854C>G (p.Ile618Met) rs193922591
NM_000545.8(HNF1A):c.1864A>C (p.Ile622Leu)
NM_000545.8(HNF1A):c.1877T>A (p.Met626Lys)
NM_000545.8(HNF1A):c.216C>G (p.Asp72Glu)
NM_000545.8(HNF1A):c.223G>A (p.Asp75Asn)
NM_000545.8(HNF1A):c.238G>T (p.Asp80Tyr) rs76845985
NM_000545.8(HNF1A):c.272A>G (p.Asn91Ser)
NM_000545.8(HNF1A):c.283G>A (p.Glu95Lys) rs1555210473
NM_000545.8(HNF1A):c.354G>A (p.Met118Ile)
NM_000545.8(HNF1A):c.392G>A (p.Arg131Gln) rs753998395
NM_000545.8(HNF1A):c.3G>A (p.Met1Ile)
NM_000545.8(HNF1A):c.41C>T (p.Ala14Val) rs772214801
NM_000545.8(HNF1A):c.464A>G (p.Lys155Arg)
NM_000545.8(HNF1A):c.498C>T (p.Tyr166=) rs1876675633
NM_000545.8(HNF1A):c.526C>T (p.Gln176Ter) rs754728827
NM_000545.8(HNF1A):c.542G>A (p.Gly181Glu)
NM_000545.8(HNF1A):c.548G>C (p.Gly183Ala)
NM_000545.8(HNF1A):c.587C>G (p.Thr196Ser)
NM_000545.8(HNF1A):c.685C>T (p.Arg229Ter) rs769086289
NM_000545.8(HNF1A):c.691A>T (p.Thr231Ser)
NM_000545.8(HNF1A):c.788G>A (p.Arg263His) rs1057520504
NM_000545.8(HNF1A):c.814C>T (p.Arg272Cys) rs1555212014
NM_000545.8(HNF1A):c.818AAG[2] (p.Glu275del) rs1288094664
NM_000545.8(HNF1A):c.845C>A (p.Ala282Asp)
NM_000545.8(HNF1A):c.862G>A (p.Gly288Arg)
NM_000545.8(HNF1A):c.863_864inv (p.Gly288Ala)
NM_000545.8(HNF1A):c.864del (p.Pro291fs) rs762703502
NM_000545.8(HNF1A):c.864delinsCC (p.Gly292fs) rs1593058932
NM_000545.8(HNF1A):c.865C>T (p.Pro289Ser) rs765829022
NM_000545.8(HNF1A):c.869C>A (p.Pro290His) rs778231679
NM_000545.8(HNF1A):c.871C>A (p.Pro291Thr) rs151256267
NM_000545.8(HNF1A):c.871C>G (p.Pro291Ala) rs151256267
NM_000545.8(HNF1A):c.872C>T (p.Pro291Leu) rs193922606
NM_000545.8(HNF1A):c.893C>T (p.Ala298Val)
NM_000545.8(HNF1A):c.929C>T (p.Pro310Leu)
NM_000545.8(HNF1A):c.932C>G (p.Ala311Gly)
NM_000545.8(HNF1A):c.943A>C (p.Ser315Arg)
NM_000545.8(HNF1A):c.950T>C (p.Val317Ala)
NM_000545.8(HNF1A):c.961C>T (p.Arg321Cys)
NM_000545.8(HNF1A):c.973C>A (p.Pro325Thr)
NM_000545.8(HNF1A):c.977C>T (p.Ala326Val) rs369764257

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