ClinVar Miner

List of variants in gene HNF1A reported as likely pathogenic for Maturity onset diabetes mellitus in young

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Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp) rs137853247 0.00076
NM_000545.8(HNF1A):c.1061C>T (p.Thr354Met) rs757068809 0.00006
NM_000545.8(HNF1A):c.29C>T (p.Thr10Met) rs774637975 0.00002
NM_000545.8(HNF1A):c.1243G>A (p.Gly415Arg) rs368683806 0.00001
NM_000545.8(HNF1A):c.1501G>A (p.Ala501Thr) rs371807951 0.00001
NM_000545.8(HNF1A):c.50T>A (p.Leu17His) rs1480672278 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.812G>A (p.Arg271Gln) rs779184183 0.00001
NM_000545.8(HNF1A):c.1129del (p.Leu377fs) rs193922576
NM_000545.8(HNF1A):c.1136_1137del (p.Pro379fs) rs1593060890
NM_000545.8(HNF1A):c.1136del (p.Pro379fs) rs1593060859
NM_000545.8(HNF1A):c.1137del (p.Val380fs) rs1555212248
NM_000545.8(HNF1A):c.1139del (p.Val380fs) rs1877113317
NM_000545.8(HNF1A):c.1140dup (p.Ser381fs) rs1593060912
NM_000545.8(HNF1A):c.130del (p.Leu44fs) rs193922578
NM_000545.8(HNF1A):c.1310-1G>A rs1877168655
NM_000545.8(HNF1A):c.1345_1346insG (p.Ile449fs) rs2135847490
NM_000545.8(HNF1A):c.1359del (p.Ser454fs) rs1555212359
NM_000545.8(HNF1A):c.139_155del (p.Gly47fs) rs2135819737
NM_000545.8(HNF1A):c.142del (p.Glu48fs) rs1566092470
NM_000545.8(HNF1A):c.1463_1473del (p.Pro488fs) rs1877180449
NM_000545.8(HNF1A):c.1501+1G>A rs1131692182
NM_000545.8(HNF1A):c.1501+4A>G
NM_000545.8(HNF1A):c.1501+5G>C rs1399164820
NM_000545.8(HNF1A):c.1541dup (p.His514fs) rs1877293842
NM_000545.8(HNF1A):c.1614_1617del (p.Thr539fs)
NM_000545.8(HNF1A):c.1623G>A (p.Gln541=)
NM_000545.8(HNF1A):c.1624-2A>G rs1877309778
NM_000545.8(HNF1A):c.169del (p.Leu57fs) rs193922588
NM_000545.8(HNF1A):c.1742_1768+2delinsACAGGG
NM_000545.8(HNF1A):c.1747_1766del (p.Arg583fs) rs1592898255
NM_000545.8(HNF1A):c.1766dup (p.Val590fs)
NM_000545.8(HNF1A):c.1768+1G>A rs1877324101
NM_000545.8(HNF1A):c.2T>C (p.Met1Thr) rs2135819325
NM_000545.8(HNF1A):c.313dup (p.Glu105fs) rs193922594
NM_000545.8(HNF1A):c.326+2T>G rs1555210478
NM_000545.8(HNF1A):c.327-3_327-1del rs1593054210
NM_000545.8(HNF1A):c.365A>G (p.Tyr122Cys) rs137853237
NM_000545.8(HNF1A):c.404A>C (p.Asp135Ala) rs1876671395
NM_000545.8(HNF1A):c.4del (p.Val2fs) rs1555260207
NM_000545.8(HNF1A):c.526+5G>A
NM_000545.8(HNF1A):c.527-1G>A rs1555211904
NM_000545.8(HNF1A):c.527-1G>C
NM_000545.8(HNF1A):c.52G>T (p.Glu18Ter) rs1876084046
NM_000545.8(HNF1A):c.607C>A (p.Arg203Ser) rs1180119907
NM_000545.8(HNF1A):c.607C>T (p.Arg203Cys) rs1180119907
NM_000545.8(HNF1A):c.686G>A (p.Arg229Gln) rs1057520779
NM_000545.8(HNF1A):c.695T>C (p.Leu232Pro)
NM_000545.8(HNF1A):c.714-1G>A rs1463923467
NM_000545.8(HNF1A):c.722_725dup (p.Ile242fs) rs1555211975
NM_000545.8(HNF1A):c.731G>T (p.Arg244Ile) rs193922602
NM_000545.8(HNF1A):c.748C>T (p.Gln250Ter) rs1308016430
NM_000545.8(HNF1A):c.779C>T (p.Thr260Met) rs886039544
NM_000545.8(HNF1A):c.790G>T (p.Val264Phe) rs193922604
NM_000545.8(HNF1A):c.794A>C (p.Tyr265Ser) rs1555212006
NM_000545.8(HNF1A):c.803T>C (p.Phe268Ser) rs193922605
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.864_897del (p.Pro290fs) rs1565885935
NM_000545.8(HNF1A):c.864del (p.Pro291fs) rs762703502
NM_000545.8(HNF1A):c.864delinsCC (p.Gly292fs) rs1593058932
NM_000545.8(HNF1A):c.955+2T>C
NM_000545.8(HNF1A):c.955+5G>C

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