ClinVar Miner

List of variants in gene HNF4A reported by Labcorp Genetics (formerly Invitae), Labcorp

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Gene type:
ClinVar version:
Total variants: 190
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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.426+6G>A rs182980547 0.00070
NM_175914.5(HNF4A):c.1032T>A (p.Ile344=) rs145880201 0.00062
NM_175914.5(HNF4A):c.1321A>G (p.Ile441Val) rs147638455 0.00061
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.921C>T (p.Asp307=) rs151168174 0.00039
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.582+20G>C rs370794722 0.00024
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.724G>A (p.Val242Met) rs139779712 0.00019
NM_175914.5(HNF4A):c.50-4753G>A rs566155738 0.00016
NM_175914.5(HNF4A):c.582+12C>T rs372596032 0.00016
NM_175914.5(HNF4A):c.408G>A (p.Ala136=) rs374298096 0.00009
NM_175914.5(HNF4A):c.427-5C>T rs374703326 0.00009
NM_175914.5(HNF4A):c.464G>A (p.Arg155Gln) rs142883089 0.00009
NM_175914.5(HNF4A):c.427-20C>T rs184217112 0.00008
NM_175914.5(HNF4A):c.1064-19C>T rs202202465 0.00007
NM_175914.5(HNF4A):c.569C>T (p.Pro190Leu) rs201749293 0.00007
NM_175914.5(HNF4A):c.225-8C>T rs759922116 0.00006
NM_175914.5(HNF4A):c.340C>T (p.Arg114Trp) rs137853336 0.00006
NM_175914.5(HNF4A):c.353G>A (p.Arg118Gln) rs764196059 0.00006
NM_175914.5(HNF4A):c.381G>A (p.Leu127=) rs193922473 0.00006
NM_175914.5(HNF4A):c.427-16C>T rs535994220 0.00006
NM_175914.5(HNF4A):c.624C>T (p.Leu208=) rs759084238 0.00006
NM_175914.5(HNF4A):c.1199G>A (p.Arg400Gln) rs202073574 0.00005
NM_175914.5(HNF4A):c.233G>A (p.Arg78Gln) rs371557531 0.00005
NM_175914.5(HNF4A):c.241G>A (p.Val81Met) rs772786482 0.00005
NM_175914.5(HNF4A):c.670+7C>T rs376544046 0.00005
NM_175914.5(HNF4A):c.83C>T (p.Ala28Val) rs140143857 0.00005
NM_175914.5(HNF4A):c.1026C>T (p.Ala342=) rs751892618 0.00004
NM_175914.5(HNF4A):c.1284G>A (p.Pro428=) rs377052026 0.00004
NM_175914.5(HNF4A):c.358T>C (p.Ser120Pro) rs780342162 0.00004
NM_175914.5(HNF4A):c.445G>A (p.Gly149Arg) rs747928745 0.00004
NM_175914.5(HNF4A):c.863G>A (p.Arg288Gln) rs371124358 0.00004
NM_175914.5(HNF4A):c.1017C>T (p.Phe339=) rs142268325 0.00003
NM_175914.5(HNF4A):c.1097C>G (p.Pro366Arg) rs193922469 0.00003
NM_175914.5(HNF4A):c.396G>A (p.Ala132=) rs370329321 0.00003
NM_175914.5(HNF4A):c.657C>T (p.Asp219=) rs376586083 0.00003
NM_175914.5(HNF4A):c.924G>T (p.Ser308=) rs140146223 0.00003
NM_175914.5(HNF4A):c.1267C>T (p.Pro423Ser) rs1063239 0.00002
NM_175914.5(HNF4A):c.131G>A (p.Arg44Gln) rs561302824 0.00002
NM_175914.5(HNF4A):c.319+10G>A rs375708199 0.00002
NM_175914.5(HNF4A):c.658G>A (p.Val220Met) rs202105574 0.00002
NM_175914.5(HNF4A):c.841A>G (p.Ser281Gly) rs201777208 0.00002
NM_175914.5(HNF4A):c.-79C>T rs373143621 0.00001
NM_175914.5(HNF4A):c.1069C>G (p.Pro357Ala) rs201319115 0.00001
NM_175914.5(HNF4A):c.106G>A (p.Ala36Thr) rs376906221 0.00001
NM_175914.5(HNF4A):c.123C>T (p.Cys41=) rs147552575 0.00001
NM_175914.5(HNF4A):c.1243C>T (p.Pro415Ser) rs150776703 0.00001
NM_175914.5(HNF4A):c.126G>C (p.Gly42=) rs781364773 0.00001
NM_175914.5(HNF4A):c.1302C>T (p.Ile434=) rs199884828 0.00001
NM_175914.5(HNF4A):c.196G>A (p.Val66Met) rs369182343 0.00001
NM_175914.5(HNF4A):c.232C>T (p.Arg78Trp) rs780813696 0.00001
NM_175914.5(HNF4A):c.321C>T (p.Ala107=) rs138290205 0.00001
NM_175914.5(HNF4A):c.341G>A (p.Arg114Gln) rs149611886 0.00001
NM_175914.5(HNF4A):c.489A>G (p.Ala163=) rs1568731613 0.00001
NM_175914.5(HNF4A):c.529G>A (p.Val177Ile) rs952494962 0.00001
NM_175914.5(HNF4A):c.582+4A>G rs376287515 0.00001
NM_175914.5(HNF4A):c.587C>A (p.Ala196Asp) rs1032164393 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.862C>T (p.Arg288Trp) rs768263630 0.00001
NM_175914.5(HNF4A):c.925C>T (p.Arg309Cys) rs193922479 0.00001
NC_000020.10:g.(?_42984253)_(42984513_?)del
NC_000020.10:g.(?_43047045)_(43047172_?)del
NM_175914.5(HNF4A):c.1037A>G (p.Asn346Ser)
NM_175914.5(HNF4A):c.105C>T (p.Ser35=)
NM_175914.5(HNF4A):c.1063+5G>A
NM_175914.5(HNF4A):c.1127T>G (p.Met376Arg) rs199956600
NM_175914.5(HNF4A):c.1150A>G (p.Asn384Asp)
NM_175914.5(HNF4A):c.1163C>T (p.Thr388Ile)
NM_175914.5(HNF4A):c.1167C>T (p.His389=)
NM_175914.5(HNF4A):c.1185G>A (p.Met395Ile)
NM_175914.5(HNF4A):c.1205G>A (p.Arg402Lys)
NM_175914.5(HNF4A):c.1210C>T (p.Gln404Ter)
NM_175914.5(HNF4A):c.1223_1224del (p.Pro408fs)
NM_175914.5(HNF4A):c.1271A>G (p.Tyr424Cys)
NM_175914.5(HNF4A):c.12G>C (p.Val4=)
NM_175914.5(HNF4A):c.1303G>A (p.Val435Ile) rs145314165
NM_175914.5(HNF4A):c.1309C>A (p.Pro437Thr) rs2063853373
NM_175914.5(HNF4A):c.1310C>G (p.Pro437Arg)
NM_175914.5(HNF4A):c.1316C>T (p.Ser439Phe)
NM_175914.5(HNF4A):c.1348G>A (p.Glu450Lys)
NM_175914.5(HNF4A):c.145C>T (p.His49Tyr)
NM_175914.5(HNF4A):c.150C>T (p.Tyr50=)
NM_175914.5(HNF4A):c.155C>A (p.Ala52Asp) rs2146368140
NM_175914.5(HNF4A):c.156C>T (p.Ala52=)
NM_175914.5(HNF4A):c.164G>A (p.Cys55Tyr)
NM_175914.5(HNF4A):c.168C>T (p.Asp56=)
NM_175914.5(HNF4A):c.186C>G (p.Phe62Leu) rs2146368300
NM_175914.5(HNF4A):c.187C>T (p.Arg63Trp) rs587777732
NM_175914.5(HNF4A):c.199C>T (p.Arg67Trp)
NM_175914.5(HNF4A):c.200G>A (p.Arg67Gln) rs1555813319
NM_175914.5(HNF4A):c.224+17dup rs371937621
NM_175914.5(HNF4A):c.224+1G>A rs1600707958
NM_175914.5(HNF4A):c.224+2T>C rs1057524790
NM_175914.5(HNF4A):c.225-13A>C
NM_175914.5(HNF4A):c.228T>C (p.Phe76=)
NM_175914.5(HNF4A):c.282G>A (p.Arg94=) rs1463516865
NM_175914.5(HNF4A):c.293G>A (p.Cys98Tyr)
NM_175914.5(HNF4A):c.298C>T (p.Arg100Trp)
NM_175914.5(HNF4A):c.2T>C (p.Met1Thr) rs1229650809
NM_175914.5(HNF4A):c.333G>A (p.Glu111=)
NM_175914.5(HNF4A):c.334C>T (p.Arg112Trp) rs370239205
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.372C>T (p.Asp124=)
NM_175914.5(HNF4A):c.395C>A (p.Ala132Glu)
NM_175914.5(HNF4A):c.405G>A (p.Gln135=)
NM_175914.5(HNF4A):c.407C>T (p.Ala136Val)
NM_175914.5(HNF4A):c.421C>T (p.Arg141Ter) rs137853335
NM_175914.5(HNF4A):c.422G>A (p.Arg141Gln) rs765237979
NM_175914.5(HNF4A):c.426+7G>C rs1600723028
NM_175914.5(HNF4A):c.427-5C>G
NM_175914.5(HNF4A):c.427A>G (p.Ile143Val) rs368759794
NM_175914.5(HNF4A):c.464G>T (p.Arg155Leu)
NM_175914.5(HNF4A):c.474G>A (p.Lys158=)
NM_175914.5(HNF4A):c.49+15G>A
NM_175914.5(HNF4A):c.498dup (p.Glu167Ter)
NM_175914.5(HNF4A):c.50-4746G>A
NM_175914.5(HNF4A):c.50-4749G>A
NM_175914.5(HNF4A):c.50-4751A>G
NM_175914.5(HNF4A):c.50-4751_50-4745del rs555295035
NM_175914.5(HNF4A):c.514C>T (p.Gln172Ter) rs1555815396
NM_175914.5(HNF4A):c.528C>T (p.Leu176=)
NM_175914.5(HNF4A):c.530T>C (p.Val177Ala) rs2146417574
NM_175914.5(HNF4A):c.536G>A (p.Trp179Ter) rs2146417581
NM_175914.5(HNF4A):c.538G>A (p.Ala180Thr)
NM_175914.5(HNF4A):c.542A>C (p.Lys181Thr)
NM_175914.5(HNF4A):c.561C>T (p.Cys187=)
NM_175914.5(HNF4A):c.562G>T (p.Glu188Ter) rs771156648
NM_175914.5(HNF4A):c.56C>G (p.Ser19Cys)
NM_175914.5(HNF4A):c.582+13G>A rs201219009
NM_175914.5(HNF4A):c.582+1G>A rs1392795567
NM_175914.5(HNF4A):c.582+20G>A
NM_175914.5(HNF4A):c.582+9G>A
NM_175914.5(HNF4A):c.583-7C>T
NM_175914.5(HNF4A):c.632C>T (p.Thr211Ile)
NM_175914.5(HNF4A):c.634A>G (p.Lys212Glu)
NM_175914.5(HNF4A):c.642C>T (p.Ser214=)
NM_175914.5(HNF4A):c.661C>T (p.Leu221=)
NM_175914.5(HNF4A):c.670+14C>G
NM_175914.5(HNF4A):c.670+8G>A
NM_175914.5(HNF4A):c.671-10A>G rs2146444875
NM_175914.5(HNF4A):c.671-13C>T
NM_175914.5(HNF4A):c.671-18C>G
NM_175914.5(HNF4A):c.671-27_689del
NM_175914.5(HNF4A):c.672C>A (p.Gly224=)
NM_175914.5(HNF4A):c.677A>T (p.Asp226Val)
NM_175914.5(HNF4A):c.689C>T (p.Pro230Leu)
NM_175914.5(HNF4A):c.691C>T (p.Arg231Trp) rs376013528
NM_175914.5(HNF4A):c.692G>A (p.Arg231Gln) rs1555816615
NM_175914.5(HNF4A):c.726G>C (p.Val242=) rs145280017
NM_175914.5(HNF4A):c.740T>C (p.Leu247Pro) rs1555816654
NM_175914.5(HNF4A):c.763C>T (p.Gln255Ter) rs137853334
NM_175914.5(HNF4A):c.780T>C (p.Asp260=)
NM_175914.5(HNF4A):c.787G>A (p.Glu263Lys)
NM_175914.5(HNF4A):c.787G>C (p.Glu263Gln)
NM_175914.5(HNF4A):c.794C>A (p.Ala265Asp) rs746602886
NM_175914.5(HNF4A):c.794C>G (p.Ala265Gly)
NM_175914.5(HNF4A):c.7A>C (p.Ser3Arg)
NM_175914.5(HNF4A):c.826+1G>A
NM_175914.5(HNF4A):c.857T>G (p.Ile286Ser)
NM_175914.5(HNF4A):c.868C>G (p.Arg290Gly)
NM_175914.5(HNF4A):c.868C>T (p.Arg290Cys) rs1555817727
NM_175914.5(HNF4A):c.869G>A (p.Arg290His) rs1191912908
NM_175914.5(HNF4A):c.86C>A (p.Pro29His)
NM_175914.5(HNF4A):c.874C>T (p.Gln292Ter)
NM_175914.5(HNF4A):c.890T>C (p.Leu297Ser) rs2146468038
NM_175914.5(HNF4A):c.912C>A (p.Arg304=) rs760811566
NM_175914.5(HNF4A):c.917A>G (p.Tyr306Cys)
NM_175914.5(HNF4A):c.931C>T (p.Arg311Cys) rs193922480
NM_175914.5(HNF4A):c.932G>A (p.Arg311His) rs1375557127
NM_175914.5(HNF4A):c.932G>T (p.Arg311Leu)
NM_175914.5(HNF4A):c.934T>G (p.Phe312Val)
NM_175914.5(HNF4A):c.951_959dup (p.Pro320_Thr321insLeuLeuPro)
NM_175914.5(HNF4A):c.991G>A (p.Glu331Lys)

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