ClinVar Miner

List of variants in gene HNF1A reported by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 80
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HGVS dbSNP gnomAD frequency
NM_000545.8(HNF1A):c.51C>G (p.Leu17=) rs1169289 0.42543
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.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.1545G>A (p.Thr515=) rs55834942 0.13864
NM_000545.8(HNF1A):c.293C>T (p.Ala98Val) rs1800574 0.02065
NM_000545.8(HNF1A):c.326+6_326+10dup rs56158114 0.00415
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_000545.8(HNF1A):c.252C>T (p.Pro84=) rs78772552 0.00215
NM_000545.8(HNF1A):c.1165T>G (p.Leu389Val) rs115080759 0.00198
NM_000545.8(HNF1A):c.1446C>T (p.Ser482=) rs147366495 0.00117
NM_000545.6(HNF1A):c.-527C>T rs3809315 0.00115
NM_000545.8(HNF1A):c.-29G>A rs376961226 0.00108
NM_000545.6(HNF1A):c.-567G>A rs919294498 0.00083
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.-5G>A rs370979090 0.00038
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_000545.8(HNF1A):c.1541A>G (p.His514Arg) rs202039659 0.00028
NM_000545.8(HNF1A):c.586A>G (p.Thr196Ala) rs139712739 0.00024
NM_000545.8(HNF1A):c.1500C>T (p.His500=) rs201694197 0.00017
NM_000545.8(HNF1A):c.693G>A (p.Thr231=) rs145240086 0.00017
NM_000545.8(HNF1A):c.-96T>G rs576862555 0.00013
NM_000545.8(HNF1A):c.521C>T (p.Ala174Val) rs201934320 0.00013
NM_000545.8(HNF1A):c.1593C>T (p.Ser531=) rs370300688 0.00008
NM_000545.8(HNF1A):c.341G>A (p.Arg114His) rs139016696 0.00007
NM_000545.8(HNF1A):c.1383C>T (p.Pro461=) rs772756175 0.00004
NM_000545.8(HNF1A):c.236A>T (p.Glu79Val) rs143753579 0.00004
NM_000545.8(HNF1A):c.900C>T (p.Pro300=) rs762555237 0.00003
NM_000545.8(HNF1A):c.29C>T (p.Thr10Met) rs774637975 0.00002
NM_000545.6(HNF1A):c.-291T>C rs534474388 0.00001
NM_000545.8(HNF1A):c.1159C>T (p.His387Tyr) rs1403526456 0.00001
NM_000545.8(HNF1A):c.1168G>A (p.Glu390Lys) rs1877115047 0.00001
NM_000545.8(HNF1A):c.146C>A (p.Ser49Tyr) rs780298807 0.00001
NM_000545.8(HNF1A):c.246G>A (p.Thr82=) rs752243228 0.00001
NM_000545.8(HNF1A):c.608G>A (p.Arg203His) rs587780357 0.00001
NM_000545.8(HNF1A):c.865C>A (p.Pro289Thr) rs765829022 0.00001
NM_000545.6(HNF1A):c.-343del rs1007340657
NM_000545.8(HNF1A):c.1018C>T (p.Pro340Ser)
NM_000545.8(HNF1A):c.107_117del (p.Tyr36fs) rs2135819653
NM_000545.8(HNF1A):c.1107+6T>C
NM_000545.8(HNF1A):c.1114G>A (p.Ala372Thr) rs587780356
NM_000545.8(HNF1A):c.1137del (p.Val380fs) rs1555212248
NM_000545.8(HNF1A):c.1147_1157del (p.Leu383fs) rs2135845949
NM_000545.8(HNF1A):c.1359del (p.Ser454fs) rs1555212359
NM_000545.8(HNF1A):c.1380_1406del (p.Gln460_Leu468del) rs544842497
NM_000545.8(HNF1A):c.155_156delinsCT (p.Gly52Ala) rs587778393
NM_000545.8(HNF1A):c.1761C>T (p.Ser587=) rs2135851686
NM_000545.8(HNF1A):c.24_35dup (p.Gln9_Leu12dup) rs2135819368
NM_000545.8(HNF1A):c.306C>T (p.Ala102=) rs1486966222
NM_000545.8(HNF1A):c.309G>T (p.Val103=) rs1374173552
NM_000545.8(HNF1A):c.326+1G>T rs2135820424
NM_000545.8(HNF1A):c.415C>T (p.Leu139Phe) rs1475566248
NM_000545.8(HNF1A):c.431T>G (p.Leu144Arg) rs2135832696
NM_000545.8(HNF1A):c.472A>T (p.Lys158Ter) rs2135832792
NM_000545.8(HNF1A):c.526+1G>A rs1364708195
NM_000545.8(HNF1A):c.526+1G>C rs1364708195
NM_000545.8(HNF1A):c.526C>T (p.Gln176Ter) rs754728827
NM_000545.8(HNF1A):c.607C>T (p.Arg203Cys) rs1180119907
NM_000545.8(HNF1A):c.629C>T (p.Ser210Phe) rs2135839404
NM_000545.8(HNF1A):c.676_678del (p.Lys226del) rs1555211927
NM_000545.8(HNF1A):c.685C>T (p.Arg229Ter) rs769086289
NM_000545.8(HNF1A):c.779C>T (p.Thr260Met) rs886039544
NM_000545.8(HNF1A):c.794A>C (p.Tyr265Ser) rs1555212006
NM_000545.8(HNF1A):c.794A>G (p.Tyr265Cys) rs1555212006
NM_000545.8(HNF1A):c.811C>T (p.Arg271Trp) rs886039386
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.840G>A (p.Lys280=) rs1876974758
NM_000545.8(HNF1A):c.864del (p.Pro291fs) rs762703502
NM_000545.8(HNF1A):c.872C>A (p.Pro291Gln) rs193922606
NM_000545.8(HNF1A):c.872dup (p.Gly292fs) rs587776825
NM_000545.8(HNF1A):c.977C>T (p.Ala326Val) rs369764257

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