ClinVar Miner

List of variants in gene HNF1A reported as pathogenic by Constantin Polychronakos Laboratory, The Research Institute of the McGill University Health Centre

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Gene type:
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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000545.8(HNF1A):c.599G>A (p.Arg200Gln) rs893256143 0.00001
NM_000545.8(HNF1A):c.812G>A (p.Arg271Gln) rs779184183 0.00001
NM_000545.8(HNF1A):c.1139del (p.Val380fs) rs1877113317
NM_000545.8(HNF1A):c.1310-1G>A rs1877168655
NM_000545.8(HNF1A):c.824A>T (p.Glu275Val) rs199890776

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