List of variants in gene HNF1A reported as pathogenic by OMIM

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: 19

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HGVS	dbSNP	gnomAD frequency
NM_000545.8(HNF1A):c.1720= (p.Ser574=)	rs1169305	0.01390
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp)	rs137853247	0.00076
NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln)	rs137853242	0.00060
NM_000545.8(HNF1A):c.1592G>C (p.Ser531Thr)	rs137853246	0.00002
NM_000545.8(HNF1A):c.1340C>T (p.Pro447Leu)	rs137853236	0.00001
NG_011731.2:g.4741A>C	rs2135818776
NM_000545.8(HNF1A):c.-119del	rs754470733
NM_000545.8(HNF1A):c.1333_1334del (p.Ser445fs)	rs2135847417
NM_000545.8(HNF1A):c.142del (p.Glu48fs)	rs1566092470
NM_000545.8(HNF1A):c.1747C>G (p.Arg583Gly)	rs137853239
NM_000545.8(HNF1A):c.335C>T (p.Pro112Leu)	rs137853243
NM_000545.8(HNF1A):c.365A>G (p.Tyr122Cys)	rs137853237
NM_000545.8(HNF1A):c.391C>T (p.Arg131Trp)	rs137853244
NM_000545.8(HNF1A):c.587_590del (p.Thr196fs)	rs2135839114
NM_000545.8(HNF1A):c.714-1G>A	rs1463923467
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.872dup (p.Gly292fs)	rs587776825
NM_000545.8(HNF1A):c.876del (p.Pro293fs)	rs2135842335

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