List of variants in gene HNF1A reported as likely risk allele by Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic

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: 31

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HGVS	dbSNP	gnomAD frequency
NM_000545.8(HNF1A):c.1165T>G (p.Leu389Val)	rs115080759	0.00198
NM_000545.8(HNF1A):c.716C>T (p.Ala239Val)	rs587778397	0.00016
NM_000545.8(HNF1A):c.962G>A (p.Arg321His)	rs751761766	0.00004
NM_000545.8(HNF1A):c.139G>C (p.Gly47Arg)	rs373180062	0.00003
NM_000545.8(HNF1A):c.-4A>G	rs561269721	0.00001
NM_000545.8(HNF1A):c.340C>T (p.Arg114Cys)	rs774996577	0.00001
NM_000545.8(HNF1A):c.775G>A (p.Val259Ile)	rs778074427	0.00001
NM_000545.8(HNF1A):c.1330_1331del (p.Gln444fs)	rs776793516
NM_000545.8(HNF1A):c.242T>C (p.Phe81Ser)	rs1565880245
NM_000545.8(HNF1A):c.26A>G (p.Gln9Arg)	rs1876081310
NM_000545.8(HNF1A):c.281C>T (p.Pro94Leu)	rs193922593
NM_000545.8(HNF1A):c.283G>A (p.Glu95Lys)	rs1555210473
NM_000545.8(HNF1A):c.326+4A>G	rs193922595
NM_000545.8(HNF1A):c.343G>T (p.Val115Leu)	rs1876667856
NM_000545.8(HNF1A):c.434C>T (p.Ser145Phe)	rs1555211426
NM_000545.8(HNF1A):c.43G>A (p.Ala15Thr)	rs1265717222
NM_000545.8(HNF1A):c.445A>G (p.Asn149Asp)	rs1565883574
NM_000545.8(HNF1A):c.485T>C (p.Leu162Pro)	rs1555211434
NM_000545.8(HNF1A):c.518_526+37del	rs386134267
NM_000545.8(HNF1A):c.55T>G (p.Ser19Ala)	rs1064793150
NM_000545.8(HNF1A):c.56C>T (p.Ser19Leu)	rs1876084584
NM_000545.8(HNF1A):c.598C>A (p.Arg200=)	rs193922598
NM_000545.8(HNF1A):c.616T>A (p.Trp206Arg)	rs1057524898
NM_000545.8(HNF1A):c.620G>A (p.Gly207Asp)	rs1555211922
NM_000545.8(HNF1A):c.670C>T (p.Pro224Ser)	rs193922600
NM_000545.8(HNF1A):c.704A>G (p.Glu235Gly)	rs1593058338
NM_000545.8(HNF1A):c.749A>C (p.Gln250Pro)	rs1555211982
NM_000545.8(HNF1A):c.767C>T (p.Ser256Phe)	rs1555211986
NM_000545.8(HNF1A):c.805G>T (p.Ala269Ser)	rs1426548804
NM_000545.8(HNF1A):c.817A>C (p.Lys273Gln)	rs1555212016
NM_000545.8(HNF1A):c.85G>C (p.Ala29Pro)	rs1876087643

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