ClinVar Miner

List of variants in gene HNF4A reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_175914.5(HNF4A):c.319+19C>T rs112386711 0.01208
NM_175914.5(HNF4A):c.393T>C (p.Asn131=) rs113308087 0.00598
NM_175914.5(HNF4A):c.1137C>T (p.Asn379=) rs61737145 0.00384
NM_175914.5(HNF4A):c.138G>A (p.Thr46=) rs145845882 0.00043
NM_175914.5(HNF4A):c.1064-19C>T rs202202465 0.00007
NM_175914.5(HNF4A):c.841A>G (p.Ser281Gly) rs201777208 0.00002
NM_175914.5(HNF4A):c.200G>A (p.Arg67Gln) rs1555813319
NM_175914.5(HNF4A):c.224+17dup rs371937621
NM_175914.5(HNF4A):c.335G>T (p.Arg112Leu)
NM_175914.5(HNF4A):c.609C>T (p.Gly203=)
NM_175914.5(HNF4A):c.655_662delinsA (p.Asp219fs)
NM_175914.5(HNF4A):c.671-10A>G rs2146444875
NM_175914.5(HNF4A):c.868C>G (p.Arg290Gly)
NM_175914.5(HNF4A):c.944TGC[6] (p.Leu319dup) rs776489992

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