List of variants in gene HNF1B reported as likely pathogenic 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: 12

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HGVS	dbSNP	gnomAD frequency
NM_000458.4(HNF1B):c.1006dup (p.His336fs)	rs1598840795
NM_000458.4(HNF1B):c.1009dup (p.His337fs)	rs1598840773
NM_000458.4(HNF1B):c.110dup (p.Asn38fs)	rs1598854747
NM_000458.4(HNF1B):c.121del (p.Gly40_Val41insTer)	rs1555833144
NM_000458.4(HNF1B):c.1235dup (p.Val413fs)	rs1598809747
NM_000458.4(HNF1B):c.1258dup (p.His420fs)	rs1598809697
NM_000458.4(HNF1B):c.1406_1413dup (p.Val472fs)	rs1598806177
NM_000458.4(HNF1B):c.344G>A (p.Ser115Asn)
NM_000458.4(HNF1B):c.345-1G>T
NM_000458.4(HNF1B):c.406dup (p.Gln136fs)	rs886041820
NM_000458.4(HNF1B):c.61dup (p.Val21fs)	rs2034124973
NM_000458.4(HNF1B):c.840dup (p.Ser281fs)	rs1598841082

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