ClinVar Miner

List of variants in gene HNF1A reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 139
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HGVS dbSNP gnomAD frequency
NM_000545.8(HNF1A):c.327-91G>A rs1169293 0.89522
NM_000545.8(HNF1A):c.1623+29T>C rs1169304 0.75160
NM_000545.8(HNF1A):c.956-221A>G rs10849828 0.73310
NM_000545.8(HNF1A):c.51C>G (p.Leu17=) rs1169289 0.42543
NM_000545.8(HNF1A):c.955+94T>G rs1169302 0.41391
NM_000545.8(HNF1A):c.79A>C (p.Ile27Leu) rs1169288 0.35489
NM_000545.8(HNF1A):c.1501+7G>A rs2464195 0.30441
NM_000545.8(HNF1A):c.1309+288G>A rs2259852 0.30440
NM_000545.8(HNF1A):c.326+91A>G rs2244608 0.28699
NM_000545.8(HNF1A):c.327-42G>A rs1169294 0.28559
NM_000545.8(HNF1A):c.327-158C>T rs1169292 0.27502
NM_000545.8(HNF1A):c.527-23C>T rs1169301 0.26300
NM_000545.8(HNF1A):c.527-98G>A rs1169300 0.26294
NM_000545.8(HNF1A):c.1460G>A (p.Ser487Asn) rs2464196 0.26206
NM_000545.8(HNF1A):c.1375C>T (p.Leu459=) rs2259820 0.26141
NM_000545.8(HNF1A):c.864G>C (p.Gly288=) rs56348580 0.25042
NM_000545.8(HNF1A):c.527-51T>A rs2071190 0.24775
NM_000545.8(HNF1A):c.1545G>A (p.Thr515=) rs55834942 0.13864
NM_000545.8(HNF1A):c.1768+44C>T rs76003406 0.03552
NM_000545.8(HNF1A):c.1501+68A>G rs55919842 0.02520
NM_000545.8(HNF1A):c.293C>T (p.Ala98Val) rs1800574 0.02065
NM_000545.8(HNF1A):c.1108-42G>T rs3751156 0.01397
NM_000545.8(HNF1A):c.1720= (p.Ser574=) rs1169305 0.01390
NM_000545.8(HNF1A):c.526+53C>G rs56224955 0.01241
NM_000545.8(HNF1A):c.326+241T>C rs575098936 0.00832
NM_000545.8(HNF1A):c.1309+26C>T rs56016526 0.00778
NM_000545.8(HNF1A):c.326+20C>A rs80051981 0.00772
NM_000545.8(HNF1A):c.1309+52C>T rs56031130 0.00583
NM_000545.8(HNF1A):c.326+6_326+10dup rs56158114 0.00415
NM_000545.8(HNF1A):c.1502-147A>G rs570317403 0.00325
NM_000545.8(HNF1A):c.276C>T (p.Leu92=) rs34056805 0.00269
NM_000545.8(HNF1A):c.1425G>A (p.Pro475=) rs145589373 0.00232
NM_000545.5(HNF1A):c.-347G>A rs76729898 0.00231
NM_000545.8(HNF1A):c.252C>T (p.Pro84=) rs78772552 0.00215
NM_000545.5(HNF1A):c.-400C>T rs77774709 0.00200
NM_000545.8(HNF1A):c.1165T>G (p.Leu389Val) rs115080759 0.00198
NM_000545.6(HNF1A):c.-527C>T rs3809315 0.00115
NM_000545.8(HNF1A):c.156C>T (p.Gly52=) rs150195625 0.00086
NM_000545.8(HNF1A):c.1107+9C>G rs17847497 0.00081
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.-89T>C rs767550584 0.00074
NM_000545.8(HNF1A):c.1539C>T (p.Thr513=) rs193922584 0.00037
NM_000545.8(HNF1A):c.336G>A (p.Pro112=) rs371365341 0.00036
NM_000545.8(HNF1A):c.1501+6C>T rs374306837 0.00035
NM_000545.5(HNF1A):c.-467C>T rs1039479235 0.00029
NM_000545.8(HNF1A):c.1541A>G (p.His514Arg) rs202039659 0.00028
NM_000545.8(HNF1A):c.1377G>A (p.Leu459=) rs118028009 0.00020
NM_000545.8(HNF1A):c.1309+102A>T rs113111047 0.00018
NM_000545.8(HNF1A):c.1500C>T (p.His500=) rs201694197 0.00017
NM_000545.8(HNF1A):c.1756G>A (p.Ala586Thr) rs373857078 0.00017
NM_000545.8(HNF1A):c.716C>T (p.Ala239Val) rs587778397 0.00016
NM_000545.8(HNF1A):c.-96T>G rs576862555 0.00013
NM_000545.8(HNF1A):c.1624-19G>A rs193922586 0.00011
NM_000545.8(HNF1A):c.1501+65G>C rs371088791 0.00010
NM_000545.8(HNF1A):c.142G>A (p.Glu48Lys) rs772222326 0.00009
NM_000545.8(HNF1A):c.-181G>A rs980850048 0.00007
NM_000545.8(HNF1A):c.1729C>G (p.His577Asp) rs376832928 0.00006
NM_000545.8(HNF1A):c.1310-12C>T rs193922579 0.00004
NM_000545.8(HNF1A):c.1624-15G>A rs193922585 0.00004
NM_000545.8(HNF1A):c.827C>G (p.Ala276Gly) rs137853245 0.00003
NM_000545.8(HNF1A):c.1504C>G (p.Leu502Val) rs924150546 0.00002
NC_000012.12:g.120978493A>G rs1876057794 0.00001
NM_000545.8(HNF1A):c.1108-6del rs1439874755 0.00001
NM_000545.8(HNF1A):c.1340C>T (p.Pro447Leu) rs137853236 0.00001
NM_000545.8(HNF1A):c.1623+20G>A rs1012229716 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.626C>A (p.Ala209Glu) rs1286294151 0.00001
NM_000545.8(HNF1A):c.812G>A (p.Arg271Gln) rs779184183 0.00001
NM_000545.8(HNF1A):c.865C>A (p.Pro289Thr) rs765829022 0.00001
NC_000012.12:g.120978487A>G
NG_011731.2:g.4741A>C rs2135818776
NM_000545.5(HNF1A):c.598C>T (p.Arg200Trp) rs193922598
NM_000545.8(HNF1A):c.-124G>C rs563304627
NM_000545.8(HNF1A):c.-167TGGGGGT[3] rs538476099
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.1137del (p.Val380fs) rs1555212248
NM_000545.8(HNF1A):c.1193_1195delinsGGT (p.Gln398_Gln399delinsArgTer) rs1593060966
NM_000545.8(HNF1A):c.1197G>C (p.Gln399His)
NM_000545.8(HNF1A):c.1309+86TCAT[6] rs58371019
NM_000545.8(HNF1A):c.1310-96G>A rs3213547
NM_000545.8(HNF1A):c.1330_1331del (p.Gln444fs) rs776793516
NM_000545.8(HNF1A):c.1378C>T (p.Gln460Ter) rs1555212363
NM_000545.8(HNF1A):c.1380_1406del (p.Gln460_Leu468del) rs544842497
NM_000545.8(HNF1A):c.1489C>T (p.Gln497Ter) rs1555212396
NM_000545.8(HNF1A):c.1501+119G>T rs2259816
NM_000545.8(HNF1A):c.1502-19CT[2] rs753496283
NM_000545.8(HNF1A):c.1502-6G>A rs1458430820
NM_000545.8(HNF1A):c.155_156delinsCT (p.Gly52Ala) rs587778393
NM_000545.8(HNF1A):c.1566G>T (p.Met522Ile) rs2135850753
NM_000545.8(HNF1A):c.1610C>T (p.Thr537Met) rs372624970
NM_000545.8(HNF1A):c.1623+16G>A rs1555212572
NM_000545.8(HNF1A):c.1762C>T (p.Pro588Ser) rs1029590003
NM_000545.8(HNF1A):c.217G>A (p.Glu73Lys)
NM_000545.8(HNF1A):c.247C>G (p.Pro83Ala) rs1201174446
NM_000545.8(HNF1A):c.335C>T (p.Pro112Leu) rs137853243
NM_000545.8(HNF1A):c.361T>C (p.Ser121Pro) rs2135832515
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.445A>G (p.Asn149Asp) rs1565883574
NM_000545.8(HNF1A):c.458C>A (p.Pro153His)
NM_000545.8(HNF1A):c.461T>C (p.Met154Thr) rs2135832753
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.490A>C (p.Thr164Pro) rs772597940
NM_000545.8(HNF1A):c.511C>T (p.Arg171Ter) rs1057520291
NM_000545.8(HNF1A):c.518T>C (p.Val173Ala)
NM_000545.8(HNF1A):c.519G>A (p.Val173=) rs534301078
NM_000545.8(HNF1A):c.526+1G>A rs1364708195
NM_000545.8(HNF1A):c.526+5_526+8del rs2135833007
NM_000545.8(HNF1A):c.526+66G>C rs12427353
NM_000545.8(HNF1A):c.526C>T (p.Gln176Ter) rs754728827
NM_000545.8(HNF1A):c.527-1G>A rs1555211904
NM_000545.8(HNF1A):c.52G>T (p.Glu18Ter) rs1876084046
NM_000545.8(HNF1A):c.55T>G (p.Ser19Ala) rs1064793150
NM_000545.8(HNF1A):c.607C>T (p.Arg203Cys) rs1180119907
NM_000545.8(HNF1A):c.620G>A (p.Gly207Asp) rs1555211922
NM_000545.8(HNF1A):c.644T>C (p.Phe215Ser) rs2135839510
NM_000545.8(HNF1A):c.685C>T (p.Arg229Ter) rs769086289
NM_000545.8(HNF1A):c.686G>A (p.Arg229Gln) rs1057520779
NM_000545.8(HNF1A):c.722G>A (p.Cys241Tyr) rs2135841113
NM_000545.8(HNF1A):c.722_725dup (p.Ile242fs) rs1555211975
NM_000545.8(HNF1A):c.779C>T (p.Thr260Met) rs886039544
NM_000545.8(HNF1A):c.788G>A (p.Arg263His) rs1057520504
NM_000545.8(HNF1A):c.811C>T (p.Arg271Trp) rs886039386
NM_000545.8(HNF1A):c.811del (p.Arg271fs) rs2135841855
NM_000545.8(HNF1A):c.814C>T (p.Arg272Cys) rs1555212014
NM_000545.8(HNF1A):c.815G>A (p.Arg272His) rs137853238
NM_000545.8(HNF1A):c.827C>A (p.Ala276Asp) rs137853245
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.866C>G (p.Pro289Arg) rs267603343
NM_000545.8(HNF1A):c.870C>T (p.Pro290=) rs779008957
NM_000545.8(HNF1A):c.872del (p.Pro291fs) rs587776825
NM_000545.8(HNF1A):c.872dup (p.Gly292fs) rs587776825
NM_000545.8(HNF1A):c.998_1013del (p.Val333fs)

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