List of variants in gene HNF4A reported as uncertain significance for Maturity onset diabetes mellitus in young

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: 58

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HGVS	dbSNP	gnomAD frequency
NM_175914.5(HNF4A):c.1217-145T>C	rs3746574	0.46132
NM_175914.5(HNF4A):c.1217-151A>C	rs74173201	0.07406
NM_175914.5(HNF4A):c.*2006T>C	rs150112206	0.00175
NM_175914.5(HNF4A):c.726G>A (p.Val242=)	rs145280017	0.00041
NM_175914.5(HNF4A):c.826+30dup	rs193922478	0.00035
NM_175914.5(HNF4A):c.427-4G>A	rs146751799	0.00021
NM_175914.5(HNF4A):c.361A>G (p.Ser121Gly)	rs193922472	0.00006
NM_175914.5(HNF4A):c.*4G>A	rs193922468	0.00005
NM_175914.5(HNF4A):c.83C>T (p.Ala28Val)	rs140143857	0.00005
NM_175914.5(HNF4A):c.*1C>A	rs201330472	0.00004
NM_175914.5(HNF4A):c.50-4700G>A	rs568730599	0.00004
NM_175914.5(HNF4A):c.68G>A (p.Gly23Asp)	rs773661614	0.00004
NM_175914.5(HNF4A):c.768G>C (p.Glu256Asp)	rs193922477	0.00004
NM_175914.5(HNF4A):c.1216+6C>A	rs778818487	0.00003
NM_175914.5(HNF4A):c.1300A>G (p.Ile434Val)	rs774111430	0.00003
NM_175914.5(HNF4A):c.53C>T (p.Thr18Met)	rs199796094	0.00003
NM_175914.5(HNF4A):c.1267C>T (p.Pro423Ser)	rs1063239	0.00002
NM_175914.5(HNF4A):c.1243C>T (p.Pro415Ser)	rs150776703	0.00001
NM_175914.5(HNF4A):c.232C>T (p.Arg78Trp)	rs780813696	0.00001
NM_175914.5(HNF4A):c.481A>G (p.Ser161Gly)	rs779555087	0.00001
NM_175914.5(HNF4A):c.582+4A>G	rs376287515	0.00001
NM_175914.5(HNF4A):c.844G>A (p.Asp282Asn)	rs145902391	0.00001
NM_175914.5(HNF4A):c.925C>T (p.Arg309Cys)	rs193922479	0.00001
NM_175914.5(HNF4A):c.*1089del	rs749515492
NM_175914.5(HNF4A):c.*1291TCCTCCCT[1]	rs3834658
NM_175914.5(HNF4A):c.*2600T>C	rs886056689
NM_175914.5(HNF4A):c.2674_2675del	rs886056691
NM_175914.5(HNF4A):c.*2676dup	rs886056692
NM_175914.5(HNF4A):c.2677_2683del	rs886056693
NM_175914.5(HNF4A):c.*2677dup	rs886056694
NM_175914.5(HNF4A):c.2678_2679insTT	rs761222838
NM_175914.5(HNF4A):c.*2678dup	rs761222838
NM_175914.5(HNF4A):c.*2679del	rs886056695
NM_175914.5(HNF4A):c.2698_2703dup	rs11450239
NM_175914.5(HNF4A):c.2698_2704del	rs886056697
NM_175914.5(HNF4A):c.*2703del	rs11450239
NM_175914.5(HNF4A):c.*2703dup	rs11450239
NM_175914.5(HNF4A):c.*2707del	rs886056698
NM_175914.5(HNF4A):c.*2707dup	rs886056699
NM_175914.5(HNF4A):c.*2777del	rs886056700
NM_175914.5(HNF4A):c.*2796AC[1]	rs548863430
NM_175914.5(HNF4A):c.*993G>A	rs2063867733
NM_175914.5(HNF4A):c.101T>A (p.Val34Asp)	rs2063496235
NM_175914.5(HNF4A):c.224+17dup	rs371937621
NM_175914.5(HNF4A):c.241G>T (p.Val81Leu)
NM_175914.5(HNF4A):c.305G>A (p.Gly102Asp)
NM_175914.5(HNF4A):c.422G>A (p.Arg141Gln)	rs765237979
NM_175914.5(HNF4A):c.426G>A (p.Gln142=)
NM_175914.5(HNF4A):c.426G>C (p.Gln142His)
NM_175914.5(HNF4A):c.427A>G (p.Ile143Val)	rs368759794
NM_175914.5(HNF4A):c.50-4560G>T	rs1254732171
NM_175914.5(HNF4A):c.50-4791_50-4788del	rs886056679
NM_175914.5(HNF4A):c.502T>C (p.Ser168Pro)
NM_175914.5(HNF4A):c.670+5G>C	rs1568735505
NM_175914.5(HNF4A):c.691C>T (p.Arg231Trp)	rs376013528
NM_175914.5(HNF4A):c.710C>T (p.Ala237Val)
NM_175914.5(HNF4A):c.7A>C (p.Ser3Arg)
NM_175914.5(HNF4A):c.944TGC[4] (p.Leu319del)	rs776489992

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