ClinVar Miner

List of variants in gene HNF1A reported as pathogenic by Gharavi Laboratory, Columbia University

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000545.8(HNF1A):c.19C>T (p.Gln7Ter) rs1566092307
NM_000545.8(HNF1A):c.392G>A (p.Arg131Gln) rs753998395
NM_000545.8(HNF1A):c.787C>T (p.Arg263Cys) rs771108132
NM_000545.8(HNF1A):c.788G>A (p.Arg263His) rs1057520504

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