ClinVar Miner

List of variants in gene HNF1A reported as uncertain significance for maturity-onset diabetes of the young

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 171
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HGVS dbSNP gnomAD frequency
NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln) rs137853242 0.00050
NM_000545.8(HNF1A):c.-5G>A rs370979090 0.00036
NM_000545.8(HNF1A):c.1539C>T (p.Thr513=) rs193922584 0.00036
NM_000545.8(HNF1A):c.1501+6C>T rs374306837 0.00031
NM_000545.8(HNF1A):c.1541A>G (p.His514Arg) rs202039659 0.00027
NM_000545.8(HNF1A):c.586A>G (p.Thr196Ala) rs139712739 0.00023
NM_000545.8(HNF1A):c.-4A>G rs561269721 0.00019
NM_000545.8(HNF1A):c.1756G>A (p.Ala586Thr) rs373857078 0.00017
NM_000545.8(HNF1A):c.185A>G (p.Asn62Ser) rs377129682 0.00017
NM_000545.8(HNF1A):c.524A>G (p.Gln175Arg) rs147400498 0.00017
NM_000545.8(HNF1A):c.693G>A (p.Thr231=) rs145240086 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 0.00009
NM_000545.8(HNF1A):c.-62C>G rs753567412 0.00008
NM_000545.8(HNF1A):c.142G>A (p.Glu48Lys) rs772222326 0.00008
NM_000545.8(HNF1A):c.1721G>A (p.Ser574Asn) rs773895173 0.00008
NM_000545.8(HNF1A):c.1061C>T (p.Thr354Met) rs757068809 0.00007
NM_000545.8(HNF1A):c.341G>A (p.Arg114His) rs139016696 0.00007
NM_000545.8(HNF1A):c.42G>A (p.Ala14=) rs775391034 0.00007
NM_000545.8(HNF1A):c.1729C>G (p.His577Asp) rs376832928 0.00006
NM_000545.8(HNF1A):c.245C>T (p.Thr82Met) rs568123980 0.00006
NM_000545.8(HNF1A):c.99G>A (p.Pro33=) rs538619966 0.00006
NM_000545.8(HNF1A):c.1405C>T (p.His469Tyr) rs201811844 0.00005
NM_000545.8(HNF1A):c.954C>T (p.His318=) rs193922607 0.00005
NM_000545.8(HNF1A):c.481G>A (p.Ala161Thr) rs201095611 0.00004
NM_000545.8(HNF1A):c.962G>A (p.Arg321His) rs751761766 0.00004
NM_000545.8(HNF1A):c.1107+6T>C rs771536348 0.00003
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.1498C>A (p.His500Asn) rs921423540 0.00003
NM_000545.8(HNF1A):c.1522G>A (p.Glu508Lys) rs483353044 0.00003
NM_000545.8(HNF1A):c.236A>T (p.Glu79Val) rs143753579 0.00003
NM_000545.8(HNF1A):c.30G>A (p.Thr10=) rs746020457 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.125G>A (p.Gly42Asp) rs1261968643 0.00002
NM_000545.8(HNF1A):c.1274C>T (p.Thr425Met) rs1401743626 0.00002
NM_000545.8(HNF1A):c.1494C>A (p.Ser498Arg) rs138145827 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.1592G>C (p.Ser531Thr) rs137853246 0.00002
NM_000545.8(HNF1A):c.1699G>A (p.Val567Ile) rs751368921 0.00002
NM_000545.8(HNF1A):c.1745A>G (p.His582Arg) rs193922589 0.00002
NM_000545.8(HNF1A):c.216C>T (p.Asp72=) rs148961412 0.00002
NM_000545.8(HNF1A):c.29C>T (p.Thr10Met) rs774637975 0.00002
NM_000545.8(HNF1A):c.713+14C>T rs193922601 0.00002
NM_000545.8(HNF1A):c.884C>T (p.Pro295Leu) rs747958319 0.00002
NM_000545.8(HNF1A):c.923C>T (p.Pro308Leu) rs754306821 0.00002
NM_000545.8(HNF1A):c.1012G>A (p.Gly338Ser) rs773847824 0.00001
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.1235T>C (p.Met412Thr) rs747433197 0.00001
NM_000545.8(HNF1A):c.1309+16T>C rs1877124452 0.00001
NM_000545.8(HNF1A):c.1400C>T (p.Pro467Leu) rs764483607 0.00001
NM_000545.8(HNF1A):c.140G>A (p.Gly47Glu) rs1391743259 0.00001
NM_000545.8(HNF1A):c.1501G>A (p.Ala501Thr) rs371807951 0.00001
NM_000545.8(HNF1A):c.1513C>A (p.His505Asn) rs577078110 0.00001
NM_000545.8(HNF1A):c.1533G>A (p.Gln511=) rs147198532 0.00001
NM_000545.8(HNF1A):c.1537A>T (p.Thr513Ser) rs753702603 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.1583C>T (p.Thr528Ile) rs775608608 0.00001
NM_000545.8(HNF1A):c.1594G>A (p.Ala532Thr) rs1421619915 0.00001
NM_000545.8(HNF1A):c.1637A>C (p.Asp546Ala) rs984428675 0.00001
NM_000545.8(HNF1A):c.1663C>T (p.Leu555Phe) rs193922587 0.00001
NM_000545.8(HNF1A):c.1695C>T (p.Leu565=) rs762669462 0.00001
NM_000545.8(HNF1A):c.181C>T (p.Pro61Ser) rs1251482432 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.354G>A (p.Met118Ile) rs764191958 0.00001
NM_000545.8(HNF1A):c.503G>A (p.Arg168His) rs377110124 0.00001
NM_000545.8(HNF1A):c.50T>A (p.Leu17His) rs1480672278 0.00001
NM_000545.8(HNF1A):c.542G>C (p.Gly181Ala) rs773315874 0.00001
NM_000545.8(HNF1A):c.557T>C (p.Ile186Thr) rs587778396 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.901G>A (p.Ala301Thr) rs555681479 0.00001
NM_000545.8(HNF1A):c.932C>A (p.Ala311Asp) rs757574765 0.00001
NM_000545.8(HNF1A):c.977C>T (p.Ala326Val) rs369764257 0.00001
NM_000545.8(HNF1A):c.-119G>A
NM_000545.8(HNF1A):c.-133_-128dup
NM_000545.8(HNF1A):c.1036_1056dup (p.Ser352_Pro353insThrProLeuHisGlnValSer)
NM_000545.8(HNF1A):c.1060A>G (p.Thr354Ala) rs1877098583
NM_000545.8(HNF1A):c.1107+9C>T
NM_000545.8(HNF1A):c.1107G>C (p.Leu369=)
NM_000545.8(HNF1A):c.1135C>A (p.Pro379Thr) rs754729248
NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala) rs754729248
NM_000545.8(HNF1A):c.1206C>A (p.Asn402Lys)
NM_000545.8(HNF1A):c.1322C>T (p.Thr441Met) rs371544082
NM_000545.8(HNF1A):c.1361G>A (p.Ser454Asn)
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.1459A>G (p.Ser487Gly) rs2135848048
NM_000545.8(HNF1A):c.1469T>C (p.Met490Thr)
NM_000545.8(HNF1A):c.1474A>G (p.Thr492Ala)
NM_000545.8(HNF1A):c.1512C>A (p.Ser504Arg) rs944413465
NM_000545.8(HNF1A):c.1524G>T (p.Glu508Asp) rs1877291173
NM_000545.8(HNF1A):c.1526T>C (p.Val509Ala)
NM_000545.8(HNF1A):c.1544C>T (p.Thr515Met) rs745460046
NM_000545.8(HNF1A):c.1544_1545delinsGA (p.Thr515Arg) rs2500009172
NM_000545.8(HNF1A):c.154G>A (p.Gly52Ser)
NM_000545.8(HNF1A):c.155_156delinsCT (p.Gly52Ala) rs587778393
NM_000545.8(HNF1A):c.1610C>T (p.Thr537Met) rs372624970
NM_000545.8(HNF1A):c.1623+3A>G rs886038347
NM_000545.8(HNF1A):c.1623G>C (p.Gln541His) rs1877301961
NM_000545.8(HNF1A):c.1668_1669delinsAT (p.His556_Thr557delinsGlnSer)
NM_000545.8(HNF1A):c.1687A>G (p.Thr563Ala) rs1877313665
NM_000545.8(HNF1A):c.1717G>T (p.Ala573Ser)
NM_000545.8(HNF1A):c.1720_1721delinsGA (p.Ser574Asp)
NM_000545.8(HNF1A):c.1727A>C (p.Gln576Pro) rs1877318918
NM_000545.8(HNF1A):c.1731C>A (p.His577Gln) rs1877319456
NM_000545.8(HNF1A):c.1733del (p.Leu578fs) rs1592898227
NM_000545.8(HNF1A):c.1747C>G (p.Arg583Gly) rs137853239
NM_000545.8(HNF1A):c.1768+11C>T rs886049034
NM_000545.8(HNF1A):c.1768+5G>A
NM_000545.8(HNF1A):c.1768+65dup rs193922590
NM_000545.8(HNF1A):c.205G>A (p.Gly69Ser) rs2499973790
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.281C>T (p.Pro94Leu) rs193922593
NM_000545.8(HNF1A):c.283G>A (p.Glu95Lys) rs1555210473
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.326+4A>G rs193922595
NM_000545.8(HNF1A):c.327-14T>C rs886049033
NM_000545.8(HNF1A):c.343G>T (p.Val115Leu) rs1876667856
NM_000545.8(HNF1A):c.355G>A (p.Val119Ile) rs1179591039
NM_000545.8(HNF1A):c.358A>G (p.Lys120Glu) rs2499987472
NM_000545.8(HNF1A):c.369GCA[4] (p.Gln125dup) rs193922596
NM_000545.8(HNF1A):c.41C>T (p.Ala14Val) rs772214801
NM_000545.8(HNF1A):c.431T>C (p.Leu144Pro) rs2135832696
NM_000545.8(HNF1A):c.464A>G (p.Lys155Arg)
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.526+2dup rs1555211448
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.589AAG[1] (p.Lys198del) rs2499995187
NM_000545.8(HNF1A):c.60G>C (p.Gly20=) rs1449504165
NM_000545.8(HNF1A):c.663GAA[1] (p.Lys222del) rs193922599
NM_000545.8(HNF1A):c.691A>T (p.Thr231Ser)
NM_000545.8(HNF1A):c.703G>C (p.Glu235Gln) rs1353807357
NM_000545.8(HNF1A):c.713+10C>T rs200502496
NM_000545.8(HNF1A):c.733G>A (p.Gly245Arg) rs2135841196
NM_000545.8(HNF1A):c.737T>C (p.Val246Ala) rs2135841238
NM_000545.8(HNF1A):c.818AAG[2] (p.Glu275del) rs1288094664
NM_000545.8(HNF1A):c.823G>A (p.Glu275Lys) rs2135841942
NM_000545.8(HNF1A):c.845C>A (p.Ala282Asp)
NM_000545.8(HNF1A):c.850_851del (p.Asp284fs) rs2499997651
NM_000545.8(HNF1A):c.862G>A (p.Gly288Arg) rs539507291
NM_000545.8(HNF1A):c.862G>T (p.Gly288Trp) rs539507291
NM_000545.8(HNF1A):c.863_864inv (p.Gly288Ala)
NM_000545.8(HNF1A):c.865C>T (p.Pro289Ser) rs765829022
NM_000545.8(HNF1A):c.866C>G (p.Pro289Arg) rs267603343
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)

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