ClinVar Miner

List of variants reported as pathogenic for Renal cysts and diabetes syndrome; Type 2 diabetes mellitus; Nonpapillary renal cell carcinoma by Fulgent Genetics, Fulgent Genetics

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000458.4(HNF1B):c.232G>T (p.Glu78Ter) rs2511850923
NM_000458.4(HNF1B):c.443C>T (p.Ser148Leu) rs121918674
NM_000458.4(HNF1B):c.477del (p.Pro159_Met160insTer) rs193922489
NM_000458.4(HNF1B):c.494G>A (p.Arg165His) rs121918675
NM_000458.4(HNF1B):c.529C>T (p.Arg177Ter) rs1800575
NM_000458.4(HNF1B):c.541C>T (p.Arg181Ter) rs1057517744
NM_000458.4(HNF1B):c.544C>T (p.Gln182Ter) rs1568670481
NM_000458.4(HNF1B):c.809+1G>A rs1555830002
NM_000458.4(HNF1B):c.826C>T (p.Arg276Ter) rs121918672
NM_000458.4(HNF1B):c.827G>A (p.Arg276Gln) rs2511802259
NM_000458.4(HNF1B):c.884G>A (p.Arg295His) rs886043813

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