ClinVar Miner

List of variants in gene HNF4A reported as uncertain significance for Monogenic diabetes

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_175914.5(HNF4A):c.724G>A (p.Val242Met) rs139779712 0.00019
NM_175914.5(HNF4A):c.*4G>A rs193922468 0.00005
NM_175914.5(HNF4A):c.131G>A (p.Arg44Gln) rs561302824 0.00002
NM_175914.5(HNF4A):c.1069C>G (p.Pro357Ala) rs201319115 0.00001
NM_175914.5(HNF4A):c.232C>T (p.Arg78Trp) rs780813696 0.00001
NM_175914.5(HNF4A):c.454G>A (p.Gly152Ser) rs760038979 0.00001
NM_175914.5(HNF4A):c.844G>A (p.Asp282Asn) rs145902391 0.00001
NM_175914.5(HNF4A):c.901A>G (p.Ile301Val) rs920346355 0.00001
NM_175914.5(HNF4A):c.1064-19C>A rs202202465
NM_175914.5(HNF4A):c.1187G>C (p.Cys396Ser) rs193922470
NM_175914.5(HNF4A):c.1306A>T (p.Lys436Ter)
NM_175914.5(HNF4A):c.209A>G (p.His70Arg)
NM_175914.5(HNF4A):c.302C>A (p.Ala101Asp)
NM_175914.5(HNF4A):c.305G>A (p.Gly102Asp)
NM_175914.5(HNF4A):c.337G>C (p.Asp113His)
NM_175914.5(HNF4A):c.337G>T (p.Asp113Tyr)
NM_175914.5(HNF4A):c.3G>A (p.Met1Ile) rs2146127594
NM_175914.5(HNF4A):c.500A>C (p.Glu167Ala)
NM_175914.5(HNF4A):c.502T>C (p.Ser168Pro)
NM_175914.5(HNF4A):c.535T>C (p.Trp179Arg)
NM_175914.5(HNF4A):c.536G>C (p.Trp179Ser)
NM_175914.5(HNF4A):c.539C>A (p.Ala180Asp)
NM_175914.5(HNF4A):c.561C>G (p.Cys187Trp)
NM_175914.5(HNF4A):c.589C>A (p.Leu197Met) rs1775879070
NM_175914.5(HNF4A):c.590T>C (p.Leu197Pro) rs1555816279
NM_175914.5(HNF4A):c.593T>G (p.Leu198Arg) rs1568735272
NM_175914.5(HNF4A):c.731T>C (p.Ile244Thr)
NM_175914.5(HNF4A):c.778G>T (p.Asp260Tyr) rs1236613475
NM_175914.5(HNF4A):c.789G>C (p.Glu263Asp) rs1568736971
NM_175914.5(HNF4A):c.937G>A (p.Gly313Arg)
Single allele

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