ClinVar Miner

List of variants in gene HNF1B, LOC126862549 studied for disorder of glycolysis

Included ClinVar conditions (70):
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Gene type:
ClinVar version:
Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_000458.4(HNF1B):c.809+109A>G rs9901538 0.01153
NM_000458.4(HNF1B):c.750C>T (p.Tyr250=) rs144249535 0.00021
NM_000458.4(HNF1B):c.660T>C (p.Asp220=) rs779375959 0.00008
NM_000458.4(HNF1B):c.723G>A (p.Ala241=) rs768490293 0.00004
NM_000458.4(HNF1B):c.592A>C (p.Ser198Arg) rs1321074352 0.00001
NM_000458.4(HNF1B):c.699C>T (p.Arg233=) rs1365215108 0.00001
NM_000458.4(HNF1B):c.545-73TCTG[3] rs3216929
NM_000458.4(HNF1B):c.558_561del (p.Val187fs)
NM_000458.4(HNF1B):c.577A>T (p.Met193Leu)
NM_000458.4(HNF1B):c.578T>C (p.Met193Thr) rs760079000
NM_000458.4(HNF1B):c.586_589del (p.Lys196fs)
NM_000458.4(HNF1B):c.589A>C (p.Ser197Arg)
NM_000458.4(HNF1B):c.601C>G (p.Gln201Glu)
NM_000458.4(HNF1B):c.618T>C (p.Phe206=)
NM_000458.4(HNF1B):c.621A>G (p.Pro207=)
NM_000458.4(HNF1B):c.622G>C (p.Glu208Gln)
NM_000458.4(HNF1B):c.628del (p.Ser210fs) rs2147553490
NM_000458.4(HNF1B):c.632_635dup (p.Ser213fs)
NM_000458.4(HNF1B):c.634C>T (p.Gln212Ter) rs2147553451
NM_000458.4(HNF1B):c.636G>C (p.Gln212His) rs1388963837
NM_000458.4(HNF1B):c.657C>T (p.Ser219=) rs148713761
NM_000458.4(HNF1B):c.658G>C (p.Asp220His) rs377555356
NM_000458.4(HNF1B):c.662A>T (p.Asp221Val)
NM_000458.4(HNF1B):c.668G>T (p.Cys223Phe)
NM_000458.4(HNF1B):c.684C>G (p.Asn228Lys)
NM_000458.4(HNF1B):c.694C>T (p.Arg232Cys)
NM_000458.4(HNF1B):c.695G>A (p.Arg232His)
NM_000458.4(HNF1B):c.698G>A (p.Arg233His)
NM_000458.4(HNF1B):c.703C>A (p.Arg235=) rs193922491
NM_000458.4(HNF1B):c.703C>T (p.Arg235Trp)
NM_000458.4(HNF1B):c.704G>A (p.Arg235Gln)
NM_000458.4(HNF1B):c.708C>T (p.Phe236=)
NM_000458.4(HNF1B):c.712T>A (p.Trp238Arg)
NM_000458.4(HNF1B):c.712T>C (p.Trp238Arg)
NM_000458.4(HNF1B):c.715G>C (p.Gly239Arg)
NM_000458.4(HNF1B):c.715_717del (p.Gly239del) rs1598842892
NM_000458.4(HNF1B):c.716G>A (p.Gly239Glu)
NM_000458.4(HNF1B):c.717del (p.Ala241fs)
NM_000458.4(HNF1B):c.717dup (p.Pro240fs) rs1598842892
NM_000458.4(HNF1B):c.719_720dup (p.Ala241fs) rs1598842886
NM_000458.4(HNF1B):c.721G>A (p.Ala241Thr)
NM_000458.4(HNF1B):c.727del (p.Gln243fs)
NM_000458.4(HNF1B):c.728A>C (p.Gln243Pro)
NM_000458.4(HNF1B):c.730C>T (p.Gln244Ter)
NM_000458.4(HNF1B):c.737T>C (p.Leu246Ser)
NM_000458.4(HNF1B):c.738G>A (p.Leu246=) rs775562256
NM_000458.4(HNF1B):c.742C>T (p.Gln248Ter)
NM_000458.4(HNF1B):c.754C>T (p.Arg252Trp) rs748416956
NM_000458.4(HNF1B):c.755G>A (p.Arg252Gln) rs529294719
NM_000458.4(HNF1B):c.755G>C (p.Arg252Pro)
NM_000458.4(HNF1B):c.758A>C (p.Gln253Pro)
NM_000458.4(HNF1B):c.758A>T (p.Gln253Leu)
NM_000458.4(HNF1B):c.766C>T (p.Pro256Ser)
NM_000458.4(HNF1B):c.778G>A (p.Glu260Lys) rs1568665613
NM_000458.4(HNF1B):c.780G>C (p.Glu260Asp)
NM_000458.4(HNF1B):c.781A>G (p.Arg261Gly)
NM_000458.4(HNF1B):c.786_787dup (p.Ala263fs)
NM_000458.4(HNF1B):c.789del (p.Ala263_Leu264insTer)
NM_000458.4(HNF1B):c.791T>C (p.Leu264Ser)
NM_000458.4(HNF1B):c.809+1G>A
NM_000458.4(HNF1B):c.809+1G>T

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