List of variants in gene HNF1A reported as likely pathogenic by GeneDx

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: 14

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HGVS	dbSNP	gnomAD frequency
NM_000545.8(HNF1A):c.827C>G (p.Ala276Gly)	rs137853245	0.00003
NM_000545.8(HNF1A):c.599G>A (p.Arg200Gln)	rs893256143	0.00001
NM_000545.8(HNF1A):c.626C>A (p.Ala209Glu)	rs1286294151	0.00001
NG_011731.2:g.4741A>C	rs2135818776
NM_000545.5(HNF1A):c.598C>T (p.Arg200Trp)	rs193922598
NM_000545.8(HNF1A):c.1193_1195delinsGGT (p.Gln398_Gln399delinsArgTer)	rs1593060966
NM_000545.8(HNF1A):c.1502-6G>A	rs1458430820
NM_000545.8(HNF1A):c.445A>G (p.Asn149Asp)	rs1565883574
NM_000545.8(HNF1A):c.526+5_526+8del	rs2135833007
NM_000545.8(HNF1A):c.52G>T (p.Glu18Ter)	rs1876084046
NM_000545.8(HNF1A):c.55T>G (p.Ser19Ala)	rs1064793150
NM_000545.8(HNF1A):c.620G>A (p.Gly207Asp)	rs1555211922
NM_000545.8(HNF1A):c.827C>A (p.Ala276Asp)	rs137853245
NM_000545.8(HNF1A):c.998_1013del (p.Val333fs)

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