ClinVar Miner

List of variants in gene HNF1A reported as likely pathogenic for Diabetes mellitus type 1; Type 1 diabetes mellitus 20; Maturity-onset diabetes of the young type 3; Type 2 diabetes mellitus; Hepatic adenomas, familial; Nonpapillary renal cell carcinoma

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000545.8(HNF1A):c.827C>G (p.Ala276Gly) rs137853245 0.00003
NM_000545.8(HNF1A):c.1556C>T (p.Pro519Leu) rs749673816 0.00001
NM_000545.8(HNF1A):c.-64_-55delinsGC
NM_000545.8(HNF1A):c.1136C>A (p.Pro379His) rs371717826
NM_000545.8(HNF1A):c.1310-2A>G rs2135847311
NM_000545.8(HNF1A):c.1555_1556dup (p.Gln520fs)
NM_000545.8(HNF1A):c.1575_1576delinsA (p.Asp526fs)
NM_000545.8(HNF1A):c.1715del (p.Pro572fs)
NM_000545.8(HNF1A):c.1720delinsGGCATCCAGCACCG (p.Ser574fs)
NM_000545.8(HNF1A):c.3G>A (p.Met1Ile)
NM_000545.8(HNF1A):c.818AAG[2] (p.Glu275del) rs1288094664

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