List of variants in gene HNF1A reported as pathogenic for type 1 diabetes mellitus 20

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_000545.8(HNF1A):c.1340C>T (p.Pro447Leu)	rs137853236	0.00001
NM_000545.5(HNF1A):c.598C>T (p.Arg200Trp)	rs193922598
NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala)	rs754729248
NM_000545.8(HNF1A):c.142del (p.Glu48fs)	rs1566092470
NM_000545.8(HNF1A):c.1456C>T (p.Gln486Ter)
NM_000545.8(HNF1A):c.1501+1G>A	rs1131692182
NM_000545.8(HNF1A):c.1522G>T (p.Glu508Ter)
NM_000545.8(HNF1A):c.1747C>G (p.Arg583Gly)	rs137853239
NM_000545.8(HNF1A):c.392G>A (p.Arg131Gln)	rs753998395
NM_000545.8(HNF1A):c.526C>T (p.Gln176Ter)	rs754728827
NM_000545.8(HNF1A):c.685C>T (p.Arg229Ter)	rs769086289
NM_000545.8(HNF1A):c.788G>A (p.Arg263His)	rs1057520504
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.864delinsCC (p.Gly292fs)	rs1593058932
NM_000545.8(HNF1A):c.872dup (p.Gly292fs)	rs587776825

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