ClinVar Miner

Variants in gene HNF4A with conflicting interpretations "benign" and "likely benign"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 49
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HGVS dbSNP gnomAD frequency
NM_175914.5(HNF4A):c.50-5C>T rs745975 0.17964
NM_175914.5(HNF4A):c.*242T>C rs41282030 0.04068
NM_175914.5(HNF4A):c.*305A>G rs56343153 0.03799
NM_175914.5(HNF4A):c.350C>T (p.Thr117Ile) rs1800961 0.02469
NM_175914.5(HNF4A):c.*167T>A rs11574744 0.01097
NM_175914.5(HNF4A):c.393T>C (p.Asn131=) rs113308087 0.00602
NM_175914.4(HNF4A):c.-278G>A rs112444447 0.00417
NM_175914.5(HNF4A):c.583-27G>A rs113495257 0.00408
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.*1078G>A rs573432571 0.00233
NM_175914.5(HNF4A):c.50-4746G>A rs75356504 0.00128
NM_175914.5(HNF4A):c.*3143G>T rs535731605 0.00101
NM_175914.5(HNF4A):c.*277T>C rs149998598 0.00099
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.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.*1395C>T rs568456380 0.00042
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.*764C>T rs537782818 0.00029
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.*977C>G rs367907885 0.00019
NM_175914.5(HNF4A):c.576C>T (p.Asp192=) rs759574096 0.00019
NM_175914.5(HNF4A):c.582+12C>T rs372596032 0.00016
NM_175914.5(HNF4A):c.*1364G>A rs187923731 0.00014
NM_175914.5(HNF4A):c.408G>A (p.Ala136=) rs374298096 0.00008
NM_175914.5(HNF4A):c.1063+120G>A rs145360792 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.1017C>T (p.Phe339=) rs142268325 0.00003
NM_175914.5(HNF4A):c.924G>T (p.Ser308=) rs140146223 0.00003
NM_175914.5(HNF4A):c.1302C>T (p.Ile434=) rs199884828 0.00002
NM_175914.5(HNF4A):c.661C>T (p.Leu221=) rs772349653 0.00002
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.489A>G (p.Ala163=) rs1568731613 0.00001
NM_175914.5(HNF4A):c.50-4G>A rs768911433 0.00001
NM_175914.5(HNF4A):c.*1291TCCTCCCT[1] rs3834658
NM_175914.5(HNF4A):c.224+17dup rs371937621
NM_175914.5(HNF4A):c.50-4751_50-4745del rs555295035
NM_175914.5(HNF4A):c.912C>A (p.Arg304=) rs760811566

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