ClinVar Miner

List of variants in gene HNF4A reported as uncertain significance for inherited Fanconi renotubular syndrome

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 68
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HGVS dbSNP gnomAD frequency
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.464G>A (p.Arg155Gln) rs142883089 0.00009
NM_175914.5(HNF4A):c.361A>G (p.Ser121Gly) rs193922472 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.83C>T (p.Ala28Val) rs140143857 0.00005
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.1144G>A (p.Val382Ile) rs377151067 0.00003
NM_175914.5(HNF4A):c.1300A>G (p.Ile434Val) rs774111430 0.00003
NM_175914.5(HNF4A):c.53C>T (p.Thr18Met) rs199796094 0.00003
NM_175914.5(HNF4A):c.657C>T (p.Asp219=) rs376586083 0.00003
NM_175914.5(HNF4A):c.791A>G (p.Tyr264Cys) rs748714111 0.00003
NM_175914.5(HNF4A):c.1267C>T (p.Pro423Ser) rs1063239 0.00002
NM_175914.5(HNF4A):c.841A>G (p.Ser281Gly) rs201777208 0.00002
NM_175914.5(HNF4A):c.106G>A (p.Ala36Thr) rs376906221 0.00001
NM_175914.5(HNF4A):c.1138G>A (p.Val380Ile) rs137853337 0.00001
NM_175914.5(HNF4A):c.1177G>A (p.Gly393Arg) rs757897768 0.00001
NM_175914.5(HNF4A):c.232C>T (p.Arg78Trp) rs780813696 0.00001
NM_175914.5(HNF4A):c.341G>A (p.Arg114Gln) rs149611886 0.00001
NM_175914.5(HNF4A):c.562G>A (p.Glu188Lys) rs771156648 0.00001
NM_175914.5(HNF4A):c.587C>A (p.Ala196Asp) rs1032164393 0.00001
NM_175914.5(HNF4A):c.714G>C (p.Glu238Asp) rs1259110384 0.00001
NM_175914.5(HNF4A):c.76C>A (p.Leu26Ile) rs753285226 0.00001
NM_175914.5(HNF4A):c.844G>A (p.Asp282Asn) rs145902391 0.00001
NM_175914.5(HNF4A):c.862C>T (p.Arg288Trp) rs768263630 0.00001
NM_175914.5(HNF4A):c.*145T>A rs200905283
NM_175914.5(HNF4A):c.1063+120G>A
NM_175914.5(HNF4A):c.10G>A (p.Val4Met)
NM_175914.5(HNF4A):c.1118A>G (p.Gln373Arg)
NM_175914.5(HNF4A):c.1185G>A (p.Met395Ile)
NM_175914.5(HNF4A):c.1187G>C (p.Cys396Ser) rs193922470
NM_175914.5(HNF4A):c.1196C>T (p.Pro399Leu)
NM_175914.5(HNF4A):c.1208G>A (p.Gly403Glu)
NM_175914.5(HNF4A):c.1208G>T (p.Gly403Val)
NM_175914.5(HNF4A):c.1250G>A (p.Gly417Asp)
NM_175914.5(HNF4A):c.1312C>A (p.Leu438Ile)
NM_175914.5(HNF4A):c.1331C>T (p.Pro444Leu)
NM_175914.5(HNF4A):c.1348G>A (p.Glu450Lys)
NM_175914.5(HNF4A):c.199C>A (p.Arg67=)
NM_175914.5(HNF4A):c.203A>G (p.Lys68Arg)
NM_175914.5(HNF4A):c.212T>G (p.Met71Arg)
NM_175914.5(HNF4A):c.287A>G (p.Lys96Arg)
NM_175914.5(HNF4A):c.28G>C (p.Ala10Pro)
NM_175914.5(HNF4A):c.2T>C (p.Met1Thr) rs1229650809
NM_175914.5(HNF4A):c.427A>G (p.Ile143Val) rs368759794
NM_175914.5(HNF4A):c.461T>G (p.Ile154Ser)
NM_175914.5(HNF4A):c.463C>G (p.Arg155Gly)
NM_175914.5(HNF4A):c.463C>T (p.Arg155Trp)
NM_175914.5(HNF4A):c.50-4560G>A rs1254732171
NM_175914.5(HNF4A):c.534G>T (p.Glu178Asp)
NM_175914.5(HNF4A):c.577G>A (p.Asp193Asn)
NM_175914.5(HNF4A):c.583-19T>A
NM_175914.5(HNF4A):c.607G>A (p.Gly203Ser) rs2146437968
NM_175914.5(HNF4A):c.609C>T (p.Gly203=)
NM_175914.5(HNF4A):c.643A>G (p.Met215Val)
NM_175914.5(HNF4A):c.655G>A (p.Asp219Asn)
NM_175914.5(HNF4A):c.702G>A (p.Pro234=)
NM_175914.5(HNF4A):c.707T>G (p.Leu236Arg)
NM_175914.5(HNF4A):c.710C>T (p.Ala237Val)
NM_175914.5(HNF4A):c.716T>C (p.Met239Thr)
NM_175914.5(HNF4A):c.7A>C (p.Ser3Arg)
NM_175914.5(HNF4A):c.911G>A (p.Arg304His)
NM_175914.5(HNF4A):c.944TGC[4] (p.Leu319del) rs776489992
NM_175914.5(HNF4A):c.991G>A (p.Glu331Lys)
NM_175914.5(HNF4A):c.999C>G (p.Ile333Met)

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