ClinVar Miner

List of variants in gene HNF4A reported by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_175914.5(HNF4A):c.50-5C>T rs745975 0.17964
NM_175914.5(HNF4A):c.135C>T (p.Ala45=) rs736823 0.03705
NM_175914.5(HNF4A):c.350C>T (p.Thr117Ile) rs1800961 0.02469
NM_175914.5(HNF4A):c.669A>G (p.Leu223=) rs139591750 0.00425
NM_175914.4(HNF4A):c.-278G>A rs112444447 0.00417
NM_175914.4(HNF4A):c.-276G>T rs148318607 0.00383
NM_175914.5(HNF4A):c.696C>T (p.His232=) rs150078978 0.00365
NM_175914.4(HNF4A):c.-401G>A rs537336047 0.00320
NM_175914.5(HNF4A):c.744C>T (p.Asp248=) rs6031592 0.00257
NM_175914.5(HNF4A):c.84G>A (p.Ala28=) rs41282026 0.00084
NM_175914.5(HNF4A):c.426+6G>A rs182980547 0.00070
NM_175914.5(HNF4A):c.1321A>G (p.Ile441Val) rs147638455 0.00061
NM_175914.5(HNF4A):c.999C>T (p.Ile333=) rs150247632 0.00045
NM_175914.5(HNF4A):c.726G>A (p.Val242=) rs145280017 0.00041
NM_175914.4(HNF4A):c.-129T>C rs541483698 0.00037
NM_175914.5(HNF4A):c.439G>A (p.Val147Ile) rs142204928 0.00025
NM_175914.5(HNF4A):c.427-4G>A rs146751799 0.00021
NM_175914.5(HNF4A):c.-83C>T rs879092890 0.00016
NM_175914.5(HNF4A):c.427-5C>T rs374703326 0.00009
NM_175914.5(HNF4A):c.569C>T (p.Pro190Leu) rs201749293 0.00007
NM_175914.5(HNF4A):c.340C>T (p.Arg114Trp) rs137853336 0.00006
NM_175914.5(HNF4A):c.381G>A (p.Leu127=) rs193922473 0.00006
NM_175914.4(HNF4A):c.-378T>A rs1048936817 0.00005
NM_175914.5(HNF4A):c.241G>A (p.Val81Met) rs772786482 0.00005
NM_175914.5(HNF4A):c.445G>A (p.Gly149Arg) rs747928745 0.00004
NM_175914.5(HNF4A):c.-18G>A rs778173957 0.00003
NM_175914.5(HNF4A):c.1144G>A (p.Val382Ile) rs377151067 0.00003
NM_175914.5(HNF4A):c.1267C>T (p.Pro423Ser) rs1063239 0.00002
NM_175914.4(HNF4A):c.-426C>G rs1193282686 0.00001
NM_175914.5(HNF4A):c.-44C>T rs546252382 0.00001
NM_175914.5(HNF4A):c.-46C>A rs764879208 0.00001
NM_175914.5(HNF4A):c.1177G>A (p.Gly393Arg) rs757897768 0.00001
NM_175914.5(HNF4A):c.1243C>T (p.Pro415Ser) rs150776703 0.00001
NM_175914.5(HNF4A):c.906C>T (p.Asn302=) rs186151007 0.00001
NM_175914.5(HNF4A):c.925C>T (p.Arg309Cys) rs193922479 0.00001
NM_175914.4(HNF4A):c.-171A>G rs2146126988
NM_175914.4(HNF4A):c.-197G>A rs2146126951
NM_175914.5(HNF4A):c.1081C>T (p.Pro361Ser) rs761517690
NM_175914.5(HNF4A):c.1229C>A (p.Thr410Asn) rs1313425622
NM_175914.5(HNF4A):c.1270T>C (p.Tyr424His) rs1025249006
NM_175914.5(HNF4A):c.1303G>A (p.Val435Ile) rs145314165
NM_175914.5(HNF4A):c.187C>T (p.Arg63Trp) rs587777732
NM_175914.5(HNF4A):c.200G>A (p.Arg67Gln) rs1555813319
NM_175914.5(HNF4A):c.224+1G>A rs1600707958
NM_175914.5(HNF4A):c.225-1G>C rs2146375350
NM_175914.5(HNF4A):c.325C>T (p.Gln109Ter) rs2146411947
NM_175914.5(HNF4A):c.335G>A (p.Arg112Gln) rs1085307913
NM_175914.5(HNF4A):c.403C>T (p.Gln135Ter) rs1555815158
NM_175914.5(HNF4A):c.470AGA[1] (p.Lys158del) rs1280663753
NM_175914.5(HNF4A):c.514C>T (p.Gln172Ter) rs1555815396
NM_175914.5(HNF4A):c.527T>C (p.Leu176Pro)
NM_175914.5(HNF4A):c.604G>A (p.Ala202Thr)
NM_175914.5(HNF4A):c.614A>C (p.His205Pro) rs2146438016
NM_175914.5(HNF4A):c.617T>A (p.Leu206Gln) rs2146438052
NM_175914.5(HNF4A):c.691C>T (p.Arg231Trp) rs376013528
NM_175914.5(HNF4A):c.740T>C (p.Leu247Pro) rs1555816654
NM_175914.5(HNF4A):c.742G>T (p.Asp248Tyr) rs2146445464
NM_175914.5(HNF4A):c.869G>A (p.Arg290His) rs1191912908
NM_175914.5(HNF4A):c.932G>T (p.Arg311Leu)
NM_175914.5(HNF4A):c.944TGC[6] (p.Leu319dup) rs776489992

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