ClinVar Miner

List of variants in gene HNF4A reported as pathogenic for not provided

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_175914.5(HNF4A):c.340C>T (p.Arg114Trp) rs137853336 0.00006
NM_175914.5(HNF4A):c.733C>T (p.Arg245Cys) rs1290868034 0.00001
NC_000020.10:g.(?_42984253)_(42984513_?)del
NM_175914.5(HNF4A):c.100del (p.Val34fs) rs1555813267
NM_175914.5(HNF4A):c.1052_1053dup (p.Leu352fs) rs2063787705
NM_175914.5(HNF4A):c.1210C>T (p.Gln404Ter)
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.224+2T>C rs1057524790
NM_175914.5(HNF4A):c.281_282delinsC (p.Arg94fs) rs193922471
NM_175914.5(HNF4A):c.2T>C (p.Met1Thr) rs1229650809
NM_175914.5(HNF4A):c.319+2T>C rs1600710669
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.352C>T (p.Arg118Ter) rs2146412136
NM_175914.5(HNF4A):c.403C>T (p.Gln135Ter) rs1555815158
NM_175914.5(HNF4A):c.421C>T (p.Arg141Ter) rs137853335
NM_175914.5(HNF4A):c.50-1G>A
NM_175914.5(HNF4A):c.514C>T (p.Gln172Ter) rs1555815396
NM_175914.5(HNF4A):c.536G>A (p.Trp179Ter) rs2146417581
NM_175914.5(HNF4A):c.562G>T (p.Glu188Ter) rs771156648
NM_175914.5(HNF4A):c.692G>A (p.Arg231Gln) rs1555816615
NM_175914.5(HNF4A):c.724del (p.Val242fs) rs1555816642
NM_175914.5(HNF4A):c.745G>T (p.Glu249Ter) rs781364316
NM_175914.5(HNF4A):c.763C>T (p.Gln255Ter) rs137853334
NM_175914.5(HNF4A):c.787G>C (p.Glu263Gln)
NM_175914.5(HNF4A):c.869G>A (p.Arg290His) rs1191912908
NM_175914.5(HNF4A):c.874C>T (p.Gln292Ter)
NM_175914.5(HNF4A):c.931C>T (p.Arg311Cys) rs193922480
NM_175914.5(HNF4A):c.968del (p.Gln323fs) rs1555817851

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