ClinVar Miner

List of variants in gene HNF1A reported as pathogenic by Genetic Services Laboratory, University of Chicago

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000545.8(HNF1A):c.107_117del (p.Tyr36fs) rs2135819653
NM_000545.8(HNF1A):c.1137del (p.Val380fs) rs1555212248
NM_000545.8(HNF1A):c.1147_1157del (p.Leu383fs) rs2135845949
NM_000545.8(HNF1A):c.1359del (p.Ser454fs) rs1555212359
NM_000545.8(HNF1A):c.326+1G>T rs2135820424
NM_000545.8(HNF1A):c.472A>T (p.Lys158Ter) rs2135832792
NM_000545.8(HNF1A):c.526+1G>A rs1364708195
NM_000545.8(HNF1A):c.526+1G>C rs1364708195
NM_000545.8(HNF1A):c.526C>T (p.Gln176Ter) rs754728827
NM_000545.8(HNF1A):c.607C>T (p.Arg203Cys) rs1180119907
NM_000545.8(HNF1A):c.685C>T (p.Arg229Ter) rs769086289
NM_000545.8(HNF1A):c.811C>T (p.Arg271Trp) rs886039386
NM_000545.8(HNF1A):c.815G>A (p.Arg272His) rs137853238
NM_000545.8(HNF1A):c.864del (p.Pro291fs) rs762703502
NM_000545.8(HNF1A):c.872dup (p.Gly292fs) rs587776825

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