ClinVar Miner

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

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 14
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HGVS dbSNP gnomAD frequency
NM_175914.4(HNF4A):c.-401G>A rs537336047 0.00320
NM_175914.5(HNF4A):c.1321A>G (p.Ile441Val) rs147638455 0.00061
NM_175914.5(HNF4A):c.726G>A (p.Val242=) rs145280017 0.00041
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.427-5C>T rs374703326 0.00009
NM_175914.5(HNF4A):c.464G>A (p.Arg155Gln) rs142883089 0.00009
NM_175914.5(HNF4A):c.569C>T (p.Pro190Leu) rs201749293 0.00007
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.*4G>A rs193922468 0.00005
NM_175914.5(HNF4A):c.241G>A (p.Val81Met) rs772786482 0.00005
NM_175914.5(HNF4A):c.*1291TCCTCCCT[1] rs3834658
NM_175914.5(HNF4A):c.224+17dup rs371937621

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