ClinVar Miner

List of variants in gene HNF4A reported by Ambry Genetics

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Gene type:
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Total variants: 61
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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 0.00602
NM_175914.5(HNF4A):c.669A>G (p.Leu223=) rs139591750 0.00386
NM_175914.5(HNF4A):c.1137C>T (p.Asn379=) rs61737145 0.00384
NM_175914.5(HNF4A):c.696C>T (p.His232=) rs150078978 0.00340
NM_175914.5(HNF4A):c.744C>T (p.Asp248=) rs6031592 0.00243
NM_175914.5(HNF4A):c.84G>A (p.Ala28=) rs41282026 0.00084
NM_175914.5(HNF4A):c.427-20C>T rs184217112 0.00058
NM_175914.5(HNF4A):c.1032T>A (p.Ile344=) rs145880201 0.00056
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.582+4A>G rs376287515 0.00034
NM_175914.5(HNF4A):c.1176C>T (p.Asn392=) rs141448616 0.00033
NM_175914.5(HNF4A):c.1321A>G (p.Ile441Val) rs147638455 0.00027
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.576C>T (p.Asp192=) rs759574096 0.00019
NM_175914.5(HNF4A):c.81C>T (p.Asn27=) rs570058788 0.00012
NM_175914.5(HNF4A):c.408G>A (p.Ala136=) rs374298096 0.00008
NM_175914.5(HNF4A):c.1293C>T (p.Val431=) rs748590780 0.00006
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_175914.5(HNF4A):c.624C>T (p.Leu208=) rs759084238 0.00006
NM_175914.5(HNF4A):c.657C>T (p.Asp219=) rs376586083 0.00003
NM_175914.5(HNF4A):c.7A>C (p.Ser3Arg) rs779464983 0.00003
NM_175914.5(HNF4A):c.1302C>T (p.Ile434=) rs199884828 0.00002
NM_175914.5(HNF4A):c.1243C>T (p.Pro415Ser) rs150776703 0.00001
NM_175914.5(HNF4A):c.195C>T (p.Ser65=) rs1008906897 0.00001
NM_175914.5(HNF4A):c.300G>T (p.Arg100=) rs373320902 0.00001
NM_175914.5(HNF4A):c.322G>A (p.Val108Ile) rs377476335 0.00001
NM_175914.5(HNF4A):c.468G>A (p.Ala156=) rs758124162 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.595A>C (p.Arg199=) rs1410863059 0.00001
NM_175914.5(HNF4A):c.609C>T (p.Gly203=) rs751231466 0.00001
NM_175914.5(HNF4A):c.710C>T (p.Ala237Val) rs145542196 0.00001
NM_175914.5(HNF4A):c.733C>T (p.Arg245Cys) rs1290868034 0.00001
NM_175914.5(HNF4A):c.844G>A (p.Asp282Asn) rs145902391 0.00001
NM_175914.5(HNF4A):c.925C>T (p.Arg309Cys) rs193922479 0.00001
NM_175914.5(HNF4A):c.990C>T (p.Ile330=) rs534709673 0.00001
NM_175914.5(HNF4A):c.101T>A (p.Val34Asp) rs2063496235
NM_175914.5(HNF4A):c.1041G>A (p.Leu347=)
NM_175914.5(HNF4A):c.114T>C (p.Cys38=) rs2515644425
NM_175914.5(HNF4A):c.1305C>G (p.Val435=) rs760563887
NM_175914.5(HNF4A):c.187C>T (p.Arg63Trp) rs587777732
NM_175914.5(HNF4A):c.221G>A (p.Cys74Tyr) rs1555813342
NM_175914.5(HNF4A):c.225-21A>G rs2515650510
NM_175914.5(HNF4A):c.305G>A (p.Gly102Asp) rs1396612785
NM_175914.5(HNF4A):c.498T>A (p.Cys166Ter) rs1555815393
NM_175914.5(HNF4A):c.502T>C (p.Ser168Pro) rs2515679906
NM_175914.5(HNF4A):c.582+1G>A rs1392795567
NM_175914.5(HNF4A):c.583-1G>C rs2515692811
NM_175914.5(HNF4A):c.691C>T (p.Arg231Trp) rs376013528
NM_175914.5(HNF4A):c.724del (p.Val242fs) rs1555816642
NM_175914.5(HNF4A):c.912C>A (p.Arg304=) rs760811566
NM_175914.5(HNF4A):c.932G>A (p.Arg311His) rs1375557127
NM_175914.5(HNF4A):c.981G>A (p.Trp327Ter) rs2515714538

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