List of variants in gene HNF1A reported as likely pathogenic by Athena Diagnostics Inc

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_000545.8(HNF1A):c.1556C>T (p.Pro519Leu)	rs749673816	0.00001
NM_000545.8(HNF1A):c.1135C>A (p.Pro379Thr)	rs754729248
NM_000545.8(HNF1A):c.150C>A (p.Cys50Ter)
NM_000545.8(HNF1A):c.1531C>T (p.Gln511Ter)	rs551484245
NM_000545.8(HNF1A):c.392G>T (p.Arg131Leu)	rs753998395
NM_000545.8(HNF1A):c.494G>A (p.Trp165Ter)	rs1555211436
NM_000545.8(HNF1A):c.586del (p.Thr196fs)	rs1565885524
NM_000545.8(HNF1A):c.654T>A (p.Tyr218Ter)
NM_000545.8(HNF1A):c.704A>G (p.Glu235Gly)	rs1593058338
NM_000545.8(HNF1A):c.818AAG[2] (p.Glu275del)	rs1288094664
NM_000545.8(HNF1A):c.956-1G>A	rs1565886545

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