ClinVar Miner

List of variants in gene HNF4A studied for Monogenic diabetes

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Total variants: 70
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HGVS dbSNP gnomAD frequency
NM_175914.5(HNF4A):c.350C>T (p.Thr117Ile) rs1800961 0.02469
NM_175914.5(HNF4A):c.1321A>G (p.Ile441Val) rs147638455 0.00061
NM_175914.5(HNF4A):c.724G>A (p.Val242Met) rs139779712 0.00019
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.321C>T (p.Ala107=) rs138290205 0.00006
NM_175914.5(HNF4A):c.340C>T (p.Arg114Trp) rs137853336 0.00006
NM_175914.5(HNF4A):c.361A>G (p.Ser121Gly) rs193922472 0.00006
NM_175914.5(HNF4A):c.*4G>A rs193922468 0.00005
NM_175914.5(HNF4A):c.1199G>A (p.Arg400Gln) rs202073574 0.00005
NM_175914.5(HNF4A):c.1017C>T (p.Phe339=) rs142268325 0.00003
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.1177G>A (p.Gly393Arg) rs757897768 0.00001
NM_175914.5(HNF4A):c.123C>T (p.Cys41=) rs147552575 0.00001
NM_175914.5(HNF4A):c.232C>T (p.Arg78Trp) rs780813696 0.00001
NM_175914.5(HNF4A):c.322G>A (p.Val108Ile) rs377476335 0.00001
NM_175914.5(HNF4A):c.454G>A (p.Gly152Ser) rs760038979 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.901A>G (p.Ile301Val) rs920346355 0.00001
NM_175914.5(HNF4A):c.-181G>A rs2146126966
NM_175914.5(HNF4A):c.1064-19C>A rs202202465
NM_175914.5(HNF4A):c.1187G>C (p.Cys396Ser) rs193922470
NM_175914.5(HNF4A):c.125G>T (p.Gly42Val)
NM_175914.5(HNF4A):c.1293C>T (p.Val431=)
NM_175914.5(HNF4A):c.1306A>T (p.Lys436Ter)
NM_175914.5(HNF4A):c.1del (p.Met1fs) rs2146127577
NM_175914.5(HNF4A):c.209A>G (p.His70Arg)
NM_175914.5(HNF4A):c.224+17dup rs371937621
NM_175914.5(HNF4A):c.224+2T>C rs1057524790
NM_175914.5(HNF4A):c.225-21A>G
NM_175914.5(HNF4A):c.278G>A (p.Cys93Tyr)
NM_175914.5(HNF4A):c.281_282delinsC (p.Arg94fs) rs193922471
NM_175914.5(HNF4A):c.2T>C (p.Met1Thr) rs1229650809
NM_175914.5(HNF4A):c.302C>A (p.Ala101Asp)
NM_175914.5(HNF4A):c.304G>A (p.Gly102Ser)
NM_175914.5(HNF4A):c.305G>A (p.Gly102Asp)
NM_175914.5(HNF4A):c.335G>A (p.Arg112Gln) rs1085307913
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.427-2A>G
NM_175914.5(HNF4A):c.48C>G (p.Tyr16Ter) rs2146127862
NM_175914.5(HNF4A):c.490dup (p.Asp164fs)
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.582+1G>A rs1392795567
NM_175914.5(HNF4A):c.582+1G>C
NM_175914.5(HNF4A):c.583-2del rs1600731198
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.660_662delinsTCAA (p.Leu221fs) rs193922476
NM_175914.5(HNF4A):c.724del (p.Val242fs) rs1555816642
NM_175914.5(HNF4A):c.731T>C (p.Ile244Thr)
NM_175914.5(HNF4A):c.734G>A (p.Arg245His)
NM_175914.5(HNF4A):c.778G>T (p.Asp260Tyr) rs1236613475
NM_175914.5(HNF4A):c.787G>C (p.Glu263Gln)
NM_175914.5(HNF4A):c.789G>C (p.Glu263Asp) rs1568736971
NM_175914.5(HNF4A):c.876_877insT (p.Val293fs)
NM_175914.5(HNF4A):c.901A>T (p.Ile301Phe)
NM_175914.5(HNF4A):c.926G>T (p.Arg309Leu) rs369429452
NM_175914.5(HNF4A):c.937G>A (p.Gly313Arg)
NM_175914.5(HNF4A):c.938G>T (p.Gly313Val)
Single allele

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