ClinVar Miner

List of variants in gene HNF1B reported by Athena Diagnostics Inc

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Gene type:
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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_000458.4(HNF1B):c.345-19C>T rs59527848 0.00765
NM_000458.4(HNF1B):c.1413C>T (p.Pro471=) rs140781855 0.00325
NM_000458.4(HNF1B):c.951C>G (p.Ala317=) rs145750370 0.00127
NM_000458.4(HNF1B):c.1045+12T>C rs141166864 0.00097
NM_000458.4(HNF1B):c.1207-18T>C rs199849203 0.00026
NM_000458.4(HNF1B):c.1594A>G (p.Met532Val) rs141193981 0.00022
NM_000458.4(HNF1B):c.852C>T (p.His284=) rs149581999 0.00022
NM_000458.4(HNF1B):c.1046-12G>A rs201751705 0.00014
NM_000458.4(HNF1B):c.1339+17G>A rs374854968 0.00006
NM_000458.4(HNF1B):c.1654-4G>A rs193922485 0.00005
NM_000458.4(HNF1B):c.1390G>A (p.Gly464Ser) rs982085453 0.00002
NM_000458.4(HNF1B):c.314A>G (p.Glu105Gly) rs375625110 0.00002
NM_000458.4(HNF1B):c.1117G>A (p.Ala373Thr) rs759270956 0.00001
NM_000458.4(HNF1B):c.1243A>T (p.Thr415Ser) rs765654692 0.00001
NM_000458.4(HNF1B):c.146C>G (p.Ser49Cys) rs770078634 0.00001
NM_000458.4(HNF1B):c.-8C>G
NM_000458.4(HNF1B):c.1206+42_1206+46del rs142240844
NM_000458.4(HNF1B):c.1207-7C>T rs1215174368
NM_000458.4(HNF1B):c.127C>G (p.Leu43Val)
NM_000458.4(HNF1B):c.1339+12T>C rs1375568430
NM_000458.4(HNF1B):c.135G>A (p.Thr45=) rs2034121058
NM_000458.4(HNF1B):c.1389C>T (p.Ala463=) rs761684626
NM_000458.4(HNF1B):c.1654-11_1654-9delinsC rs386134268
NM_000458.4(HNF1B):c.226G>T (p.Gly76Cys)
NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn)
NM_000458.4(HNF1B):c.344+1G>A
NM_000458.4(HNF1B):c.374T>A (p.Ile125Asn) rs2147575564
NM_000458.4(HNF1B):c.439C>T (p.Gln147Ter)
NM_000458.4(HNF1B):c.473C>A (p.Thr158Asn) rs1568670646
NM_000458.4(HNF1B):c.494G>A (p.Arg165His)
NM_000458.4(HNF1B):c.544C>T (p.Gln182Ter)
NM_000458.4(HNF1B):c.78G>T (p.Leu26=)
NM_000458.4(HNF1B):c.826C>T (p.Arg276Ter)
NM_000458.4(HNF1B):c.884G>A (p.Arg295His)
NM_000458.4(HNF1B):c.972C>T (p.His324=) rs753631084

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