List of variants in gene combination ENG, LOC102723566 reported as likely pathogenic for Telangiectasia, hereditary hemorrhagic, type 1

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_001114753.3(ENG):c.1306C>T (p.Gln436Ter)	rs1554809450	0.00001
NM_001114753.3(ENG):c.1153del (p.Thr385fs)	rs2131879343
NM_001114753.3(ENG):c.1166_1168del (p.Phe389del)	rs1588577016
NM_001114753.3(ENG):c.1268A>G (p.Asn423Ser)	rs1830431553
NM_001114753.3(ENG):c.1273-2A>G	rs373842615
NM_001114753.3(ENG):c.1311+5G>A	rs1830423993
NM_001114753.3(ENG):c.1311+5G>C	rs1830423993
NM_001114753.3(ENG):c.1472_1475del (p.Asp491fs)	rs1830384910
NM_001114753.3(ENG):c.1479C>A (p.Cys493Ter)	rs1197761705
NM_001114753.3(ENG):c.1484T>C (p.Leu495Pro)	rs1830384577
NM_001114753.3(ENG):c.1513G>T (p.Glu505Ter)	rs1830383454
NM_001114753.3(ENG):c.1586G>A (p.Arg529His)	rs863223538
NM_001114753.3(ENG):c.1645T>G (p.Cys549Gly)	rs1830376644
NM_001114753.3(ENG):c.1687-1G>A	rs1554809106

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