ClinVar Miner

List of variants in gene HNF1B reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_000458.4(HNF1B):c.1654-22= rs3110641 0.67606
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.73G>T (p.Val25Leu) rs139107479 0.00015
NM_000458.4(HNF1B):c.1534+11G>A rs373875820 0.00009
NM_000458.4(HNF1B):c.1339+17G>A rs374854968 0.00006
NM_000458.4(HNF1B):c.1239C>T (p.Val413=) rs201113814 0.00005
NM_000458.4(HNF1B):c.1654-4G>A rs193922485 0.00005
NM_000458.4(HNF1B):c.1390G>A (p.Gly464Ser) rs982085453 0.00002
NC_000017.10:g.(?_36046433)_(36105070_?)del
NM_000458.4(HNF1B):c.*111G>C
NM_000458.4(HNF1B):c.-14dup rs193922481
NM_000458.4(HNF1B):c.1006C>T (p.His336Tyr)
NM_000458.4(HNF1B):c.1108G>A (p.Gly370Ser)
NM_000458.4(HNF1B):c.1325T>C (p.Met442Thr)
NM_000458.4(HNF1B):c.140C>T (p.Pro47Leu)
NM_000458.4(HNF1B):c.1654-11_1654-9delinsC rs386134268
NM_000458.4(HNF1B):c.221T>A (p.Leu74Ter)
NM_000458.4(HNF1B):c.226G>T (p.Gly76Cys)
NM_000458.4(HNF1B):c.336G>T (p.Arg112=) rs2034108474
NM_000458.4(HNF1B):c.344G>A (p.Ser115Asn)
NM_000458.4(HNF1B):c.345-1G>T
NM_000458.4(HNF1B):c.352C>G (p.Pro118Ala)
NM_000458.4(HNF1B):c.477del (p.Pro159_Met160insTer)
NM_000458.4(HNF1B):c.511T>C (p.Trp171Arg)
NM_000458.4(HNF1B):c.58G>A (p.Gly20Arg) rs1052557621
NM_000458.4(HNF1B):c.949G>T (p.Ala317Ser)
NM_000458.4(HNF1B):c.962A>G (p.Asn321Ser)

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