ClinVar Miner

List of variants in gene HNF4A reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_175914.5(HNF4A):c.*3086C>T rs551080524 0.00706
NM_175914.5(HNF4A):c.669A>G (p.Leu223=) rs139591750 0.00425
NM_175914.5(HNF4A):c.1137C>T (p.Asn379=) rs61737145 0.00384
NM_175914.5(HNF4A):c.*1127T>C rs757386171 0.00337
NM_175914.5(HNF4A):c.744C>T (p.Asp248=) rs6031592 0.00257
NM_175914.5(HNF4A):c.*1783G>T rs564110189 0.00161
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.439G>A (p.Val147Ile) rs142204928 0.00025
NM_175914.5(HNF4A):c.464G>A (p.Arg155Gln) rs142883089 0.00009
NM_175914.5(HNF4A):c.123C>T (p.Cys41=) rs147552575 0.00001
NM_175914.5(HNF4A):c.481A>G (p.Ser161Gly) rs779555087 0.00001
NM_175914.5(HNF4A):c.239G>A (p.Cys80Tyr) rs2146375487
NM_175914.5(HNF4A):c.944TGC[4] (p.Leu319del) rs776489992

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