ClinVar Miner

List of variants in gene HNF4A reported as pathogenic for digestive system disorder

Included ClinVar conditions (605):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_175914.5(HNF4A):c.340C>T (p.Arg114Trp) rs137853336 0.00006
NM_175914.5(HNF4A):c.1138G>A (p.Val380Ile) rs137853337 0.00001
NM_175914.5(HNF4A):c.1198C>T (p.Arg400Ter) rs1413742263 0.00001
NM_175914.5(HNF4A):c.322G>A (p.Val108Ile) rs377476335 0.00001
NM_175914.5(HNF4A):c.733C>T (p.Arg245Cys) rs1290868034 0.00001
NM_175914.5(HNF4A):c.925C>T (p.Arg309Cys) rs193922479 0.00001
HNF4A, 1-BP DEL, PHE75T
NM_175914.5(HNF4A):c.-181G>A rs2146126966
NM_175914.5(HNF4A):c.-181G>C rs2146126966
NM_175914.5(HNF4A):c.1033G>T (p.Asp345Tyr)
NM_175914.5(HNF4A):c.1052T>G (p.Met351Arg) rs137853338
NM_175914.5(HNF4A):c.1064-1G>T
NM_175914.5(HNF4A):c.1086dup (p.Ala363fs)
NM_175914.5(HNF4A):c.187C>T (p.Arg63Trp) rs587777732
NM_175914.5(HNF4A):c.200G>A (p.Arg67Gln) rs1555813319
NM_175914.5(HNF4A):c.224+2T>C rs1057524790
NM_175914.5(HNF4A):c.225-21A>G
NM_175914.5(HNF4A):c.265C>T (p.Gln89Ter) rs1568724014
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.421C>T (p.Arg141Ter) rs137853335
NM_175914.5(HNF4A):c.427-1G>A rs1568731279
NM_175914.5(HNF4A):c.47dup (p.Tyr16Ter) rs2146127847
NM_175914.5(HNF4A):c.48C>A (p.Tyr16Ter) rs2146127862
NM_175914.5(HNF4A):c.48C>G (p.Tyr16Ter) rs2146127862
NM_175914.5(HNF4A):c.498T>A (p.Cys166Ter) rs1555815393
NM_175914.5(HNF4A):c.514C>T (p.Gln172Ter) rs1555815396
NM_175914.5(HNF4A):c.537G>A (p.Trp179Ter)
NM_175914.5(HNF4A):c.582+1G>A rs1392795567
NM_175914.5(HNF4A):c.583-2del rs1600731198
NM_175914.5(HNF4A):c.691C>T (p.Arg231Trp) rs376013528
NM_175914.5(HNF4A):c.724del (p.Val242fs) rs1555816642
NM_175914.5(HNF4A):c.734G>A (p.Arg245His)
NM_175914.5(HNF4A):c.763C>T (p.Gln255Ter) rs137853334
NM_175914.5(HNF4A):c.869G>A (p.Arg290His) rs1191912908
NM_175914.5(HNF4A):c.876_877insT (p.Val293fs)
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.950T>G (p.Leu317Arg) rs2146468685
NM_175914.5(HNF4A):c.956T>C (p.Leu319Pro) rs2063786151
NM_175914.5(HNF4A):c.981G>A (p.Trp327Ter)

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