ClinVar Miner

List of variants in gene HNF4A reported by Ambry Genetics

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Gene type:
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Total variants: 48
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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.319+19C>T rs112386711 0.01208
NM_175914.5(HNF4A):c.393T>C (p.Asn131=) rs113308087 0.00598
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.696C>T (p.His232=) rs150078978 0.00365
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.1032T>A (p.Ile344=) rs145880201 0.00062
NM_175914.5(HNF4A):c.999C>T (p.Ile333=) rs150247632 0.00045
NM_175914.5(HNF4A):c.138G>A (p.Thr46=) rs145845882 0.00043
NM_175914.5(HNF4A):c.726G>A (p.Val242=) rs145280017 0.00041
NM_175914.5(HNF4A):c.1176C>T (p.Asn392=) rs141448616 0.00033
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.340C>T (p.Arg114Trp) rs137853336 0.00006
NM_175914.5(HNF4A):c.624C>T (p.Leu208=) rs759084238 0.00006
NM_175914.5(HNF4A):c.1302C>T (p.Ile434=) rs199884828 0.00001
NM_175914.5(HNF4A):c.322G>A (p.Val108Ile) rs377476335 0.00001
NM_175914.5(HNF4A):c.481A>G (p.Ser161Gly) rs779555087 0.00001
NM_175914.5(HNF4A):c.489A>G (p.Ala163=) rs1568731613 0.00001
NM_175914.5(HNF4A):c.582+4A>G rs376287515 0.00001
NM_175914.5(HNF4A):c.733C>T (p.Arg245Cys) rs1290868034 0.00001
NM_175914.5(HNF4A):c.81C>T (p.Asn27=) rs570058788 0.00001
NM_175914.5(HNF4A):c.844G>A (p.Asp282Asn) rs145902391 0.00001
NM_175914.5(HNF4A):c.101T>A (p.Val34Asp) rs2063496235
NM_175914.5(HNF4A):c.114T>C (p.Cys38=)
NM_175914.5(HNF4A):c.1293C>T (p.Val431=)
NM_175914.5(HNF4A):c.1305C>G (p.Val435=)
NM_175914.5(HNF4A):c.187C>T (p.Arg63Trp) rs587777732
NM_175914.5(HNF4A):c.195C>T (p.Ser65=) rs1008906897
NM_175914.5(HNF4A):c.221G>A (p.Cys74Tyr) rs1555813342
NM_175914.5(HNF4A):c.300G>T (p.Arg100=)
NM_175914.5(HNF4A):c.305G>A (p.Gly102Asp)
NM_175914.5(HNF4A):c.498T>A (p.Cys166Ter) rs1555815393
NM_175914.5(HNF4A):c.502T>C (p.Ser168Pro)
NM_175914.5(HNF4A):c.582+1G>A rs1392795567
NM_175914.5(HNF4A):c.583-1G>C
NM_175914.5(HNF4A):c.595A>C (p.Arg199=)
NM_175914.5(HNF4A):c.691C>T (p.Arg231Trp) rs376013528
NM_175914.5(HNF4A):c.710C>T (p.Ala237Val)
NM_175914.5(HNF4A):c.724del (p.Val242fs) rs1555816642
NM_175914.5(HNF4A):c.7A>C (p.Ser3Arg)
NM_175914.5(HNF4A):c.932G>A (p.Arg311His) rs1375557127
NM_175914.5(HNF4A):c.981G>A (p.Trp327Ter)
NM_175914.5(HNF4A):c.990C>T (p.Ile330=)

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