ClinVar Miner

List of variants in gene HNF1A reported as pathogenic by Invitae

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Gene type:
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Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_000545.8(HNF1A):c.1340C>T (p.Pro447Leu) rs137853236 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_000545.5(HNF1A):c.598C>T (p.Arg200Trp) rs193922598
NM_000545.8(HNF1A):c.1022del (p.Pro340_Leu341insTer) rs1877096238
NM_000545.8(HNF1A):c.1053del (p.Ser352fs)
NM_000545.8(HNF1A):c.1107+1G>C
NM_000545.8(HNF1A):c.1129del (p.Leu377fs) rs193922576
NM_000545.8(HNF1A):c.1129dup (p.Leu377fs)
NM_000545.8(HNF1A):c.1135C>A (p.Pro379Thr) rs754729248
NM_000545.8(HNF1A):c.1136_1137del (p.Pro379fs) rs1593060890
NM_000545.8(HNF1A):c.1136dup (p.Val380fs)
NM_000545.8(HNF1A):c.1137del (p.Val380fs) rs1555212248
NM_000545.8(HNF1A):c.1146_1156dup (p.Leu386delinsProTer)
NM_000545.8(HNF1A):c.1330_1331del (p.Gln444fs) rs776793516
NM_000545.8(HNF1A):c.1417C>T (p.Gln473Ter)
NM_000545.8(HNF1A):c.142dup (p.Glu48fs)
NM_000545.8(HNF1A):c.1502-6G>A rs1458430820
NM_000545.8(HNF1A):c.1504del (p.Leu502fs)
NM_000545.8(HNF1A):c.1541del (p.His514fs)
NM_000545.8(HNF1A):c.160C>T (p.Arg54Ter) rs766956862
NM_000545.8(HNF1A):c.166G>T (p.Glu56Ter)
NM_000545.8(HNF1A):c.174dup (p.Glu59Ter)
NM_000545.8(HNF1A):c.1A>G (p.Met1Val) rs193922592
NM_000545.8(HNF1A):c.211G>T (p.Glu71Ter)
NM_000545.8(HNF1A):c.244_245insGA (p.Thr82fs)
NM_000545.8(HNF1A):c.262G>T (p.Glu88Ter)
NM_000545.8(HNF1A):c.320T>G (p.Leu107Arg) rs2135820413
NM_000545.8(HNF1A):c.335C>T (p.Pro112Leu) rs137853243
NM_000545.8(HNF1A):c.347C>T (p.Ala116Val)
NM_000545.8(HNF1A):c.365A>G (p.Tyr122Cys) rs137853237
NM_000545.8(HNF1A):c.366C>A (p.Tyr122Ter) rs2135832527
NM_000545.8(HNF1A):c.377A>G (p.His126Arg)
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.452del (p.Gly151fs)
NM_000545.8(HNF1A):c.472A>T (p.Lys158Ter) rs2135832792
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.498C>A (p.Tyr166Ter)
NM_000545.8(HNF1A):c.511C>G (p.Arg171Gly) rs1057520291
NM_000545.8(HNF1A):c.511C>T (p.Arg171Ter) rs1057520291
NM_000545.8(HNF1A):c.526+1G>A rs1364708195
NM_000545.8(HNF1A):c.526+1G>C rs1364708195
NM_000545.8(HNF1A):c.526+5_526+8del rs2135833007
NM_000545.8(HNF1A):c.526C>T (p.Gln176Ter) rs754728827
NM_000545.8(HNF1A):c.527-1G>A rs1555211904
NM_000545.8(HNF1A):c.576del (p.Asp192fs) rs2135839075
NM_000545.8(HNF1A):c.607C>T (p.Arg203Cys) rs1180119907
NM_000545.8(HNF1A):c.608G>T (p.Arg203Leu) rs587780357
NM_000545.8(HNF1A):c.661C>T (p.Gln221Ter) rs2135839643
NM_000545.8(HNF1A):c.662del (p.Gln221fs)
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.787C>T (p.Arg263Cys) rs771108132
NM_000545.8(HNF1A):c.788G>A (p.Arg263His) rs1057520504
NM_000545.8(HNF1A):c.801G>A (p.Trp267Ter)
NM_000545.8(HNF1A):c.811C>T (p.Arg271Trp) rs886039386
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.863_864insC (p.Pro289fs) rs766191969
NM_000545.8(HNF1A):c.864del (p.Pro291fs) rs762703502
NM_000545.8(HNF1A):c.865_866delinsG (p.Pro289fs)
NM_000545.8(HNF1A):c.872del (p.Pro291fs) rs587776825
NM_000545.8(HNF1A):c.872dup (p.Gly292fs) rs587776825
NM_000545.8(HNF1A):c.934del (p.Leu312fs)
NM_000545.8(HNF1A):c.942del (p.Ser315fs)
NM_000545.8(HNF1A):c.947del (p.Lys316fs)
NM_000545.8(HNF1A):c.94G>T (p.Glu32Ter) rs1388926124
NM_000545.8(HNF1A):c.981del (p.Ser328fs)

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