List of variants in gene HNF4A reported as likely pathogenic by Genetic Services Laboratory, University of Chicago

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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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.925C>T (p.Arg309Cys)	rs193922479	0.00001
NM_175914.5(HNF4A):c.200G>A (p.Arg67Gln)	rs1555813319
NM_175914.5(HNF4A):c.225-1G>C	rs2146375350
NM_175914.5(HNF4A):c.335G>A (p.Arg112Gln)	rs1085307913
NM_175914.5(HNF4A):c.470AGA[1] (p.Lys158del)	rs1280663753
NM_175914.5(HNF4A):c.614A>C (p.His205Pro)	rs2146438016
NM_175914.5(HNF4A):c.617T>A (p.Leu206Gln)	rs2146438052
NM_175914.5(HNF4A):c.691C>T (p.Arg231Trp)	rs376013528
NM_175914.5(HNF4A):c.740T>C (p.Leu247Pro)	rs1555816654
NM_175914.5(HNF4A):c.869G>A (p.Arg290His)	rs1191912908
NM_175914.5(HNF4A):c.944TGC[6] (p.Leu319dup)	rs776489992

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