ClinVar Miner

List of variants in gene HNF1B reported as pathogenic for not provided

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Total variants: 33
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 17q12(chr17:36047375-36104875)x1
NM_000458.4(HNF1B):c.1006del (p.His336fs)
NM_000458.4(HNF1B):c.1042del (p.Ser348fs)
NM_000458.4(HNF1B):c.1063C>T (p.Gln355Ter) rs1449365696
NM_000458.4(HNF1B):c.1096_1099del (p.Ile366fs)
NM_000458.4(HNF1B):c.1130_1131del (p.Ser377fs) rs2147473703
NM_000458.4(HNF1B):c.1131_1134dup (p.Ser379fs)
NM_000458.4(HNF1B):c.25C>T (p.Gln9Ter)
NM_000458.4(HNF1B):c.344+1G>A
NM_000458.4(HNF1B):c.344+2T>G
NM_000458.4(HNF1B):c.344+2_344+5del
NM_000458.4(HNF1B):c.406C>T (p.Gln136Ter)
NM_000458.4(HNF1B):c.406dup (p.Gln136fs) rs886041820
NM_000458.4(HNF1B):c.439C>T (p.Gln147Ter)
NM_000458.4(HNF1B):c.443C>A (p.Ser148Ter)
NM_000458.4(HNF1B):c.443C>G (p.Ser148Trp)
NM_000458.4(HNF1B):c.443C>T (p.Ser148Leu)
NM_000458.4(HNF1B):c.477del (p.Pro159_Met160insTer)
NM_000458.4(HNF1B):c.478A>G (p.Met160Val)
NM_000458.4(HNF1B):c.493C>T (p.Arg165Cys)
NM_000458.4(HNF1B):c.494G>A (p.Arg165His)
NM_000458.4(HNF1B):c.513G>A (p.Trp171Ter)
NM_000458.4(HNF1B):c.516C>G (p.Tyr172Ter) rs764561297
NM_000458.4(HNF1B):c.529C>T (p.Arg177Ter)
NM_000458.4(HNF1B):c.541C>T (p.Arg181Ter)
NM_000458.4(HNF1B):c.544+1G>A
NM_000458.4(HNF1B):c.544+1G>T
NM_000458.4(HNF1B):c.544C>T (p.Gln182Ter)
NM_000458.4(HNF1B):c.815_825del (p.Glu272fs) rs2147545812
NM_000458.4(HNF1B):c.826C>T (p.Arg276Ter)
NM_000458.4(HNF1B):c.827G>A (p.Arg276Gln)
NM_000458.4(HNF1B):c.884G>A (p.Arg295His)
NM_000458.4(HNF1B):c.913A>G (p.Lys305Glu) rs2147545316

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