List of variants in gene HNF1A reported as pathogenic for not provided

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 110

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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_000545.8(HNF1A):c.812G>A (p.Arg271Gln)	rs779184183	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.1043dup (p.His349fs)	rs2135845255
NM_000545.8(HNF1A):c.1053del (p.Ser352fs)
NM_000545.8(HNF1A):c.107_117del (p.Tyr36fs)	rs2135819653
NM_000545.8(HNF1A):c.1080_1081dup (p.Ser361fs)	rs2135845384
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.1139_1149del (p.Val380fs)
NM_000545.8(HNF1A):c.1140dup (p.Ser381fs)	rs1593060912
NM_000545.8(HNF1A):c.1146_1156dup (p.Leu386delinsProTer)
NM_000545.8(HNF1A):c.1147_1157del (p.Leu383fs)	rs2135845949
NM_000545.8(HNF1A):c.1330_1331del (p.Gln444fs)	rs776793516
NM_000545.8(HNF1A):c.1359del (p.Ser454fs)	rs1555212359
NM_000545.8(HNF1A):c.1378C>T (p.Gln460Ter)	rs1555212363
NM_000545.8(HNF1A):c.1417C>T (p.Gln473Ter)
NM_000545.8(HNF1A):c.142dup (p.Glu48fs)
NM_000545.8(HNF1A):c.1463_1473del (p.Pro488fs)	rs1877180449
NM_000545.8(HNF1A):c.1483C>T (p.Gln495Ter)	rs1565887211
NM_000545.8(HNF1A):c.1489C>T (p.Gln497Ter)	rs1555212396
NM_000545.8(HNF1A):c.1502-6G>A	rs1458430820
NM_000545.8(HNF1A):c.1504del (p.Leu502fs)
NM_000545.8(HNF1A):c.1516_1624-30del	rs1592897526
NM_000545.8(HNF1A):c.1541del (p.His514fs)
NM_000545.8(HNF1A):c.160C>T (p.Arg54Ter)	rs766956862
NM_000545.8(HNF1A):c.1641_1642del (p.Glu548fs)	rs2135851223
NM_000545.8(HNF1A):c.166G>T (p.Glu56Ter)
NM_000545.8(HNF1A):c.1747_1766del (p.Arg583fs)	rs1592898255
NM_000545.8(HNF1A):c.174dup (p.Glu59Ter)
NM_000545.8(HNF1A):c.1768+1G>A	rs1877324101
NM_000545.8(HNF1A):c.19C>T (p.Gln7Ter)	rs1566092307
NM_000545.8(HNF1A):c.1A>G (p.Met1Val)	rs193922592
NM_000545.8(HNF1A):c.1A>T (p.Met1Leu)	rs193922592
NM_000545.8(HNF1A):c.211G>T (p.Glu71Ter)
NM_000545.8(HNF1A):c.244_245insGA (p.Thr82fs)
NM_000545.8(HNF1A):c.25C>T (p.Gln9Ter)	rs2135819387
NM_000545.8(HNF1A):c.262G>T (p.Glu88Ter)
NM_000545.8(HNF1A):c.320T>G (p.Leu107Arg)	rs2135820413
NM_000545.8(HNF1A):c.326+1G>T	rs2135820424
NM_000545.8(HNF1A):c.326+2T>G	rs1555210478
NM_000545.8(HNF1A):c.327-3_327-1del	rs1593054210
NM_000545.8(HNF1A):c.335C>T (p.Pro112Leu)	rs137853243
NM_000545.8(HNF1A):c.335del (p.Pro112fs)
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.370C>T (p.Gln124Ter)	rs1565883507
NM_000545.8(HNF1A):c.377A>G (p.His126Arg)
NM_000545.8(HNF1A):c.388C>T (p.Gln130Ter)	rs1876669962
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.425C>T (p.Ser142Phe)	rs2135832668
NM_000545.8(HNF1A):c.434C>T (p.Ser145Phe)	rs1555211426
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.4del (p.Val2fs)	rs1555260207
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.710dup (p.Asn237fs)
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.754C>T (p.Gln252Ter)
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.790_791del (p.Val264fs)	rs1555211999
NM_000545.8(HNF1A):c.801G>A (p.Trp267Ter)
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.819A>T (p.Lys273Asn)	rs1593058831
NM_000545.8(HNF1A):c.863_864insC (p.Pro289fs)	rs766191969
NM_000545.8(HNF1A):c.864del (p.Pro291fs)	rs762703502
NM_000545.8(HNF1A):c.864delinsCC (p.Gly292fs)	rs1593058932
NM_000545.8(HNF1A):c.865_866delinsG (p.Pro289fs)
NM_000545.8(HNF1A):c.866_867delinsT (p.Pro289fs)	rs2135842256
NM_000545.8(HNF1A):c.872del (p.Pro291fs)	rs587776825
NM_000545.8(HNF1A):c.872dup (p.Gly292fs)	rs587776825
NM_000545.8(HNF1A):c.899_900delinsTCCCCTG (p.Pro300fs)	rs2135842474
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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