List of variants in gene combination ENG, LOC102723566 reported as likely pathogenic by NIHR Bioresource Rare Diseases, University of Cambridge

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: 6

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HGVS	dbSNP	gnomAD frequency
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.1311+5G>C	rs1830423993
NM_001114753.3(ENG):c.1484T>C (p.Leu495Pro)	rs1830384577
NM_001114753.3(ENG):c.1727_1732del (p.Ser576_Asp578delinsAsn)	rs1588573831
NM_001114753.3(ENG):c.1734C>G (p.Asp578Glu)	rs374644720

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