List of variants in gene RP1 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: 10

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HGVS	dbSNP	gnomAD frequency
NM_006269.2(RP1):c.616-6T>C	rs186571865	0.00458
NM_006269.2(RP1):c.515T>G (p.Leu172Arg)	rs180729424	0.00003
NM_006269.2(RP1):c.1498_1499del (p.Met500fs)	rs765129639	0.00002
NM_006269.2(RP1):c.2032C>T (p.Gln678Ter)	rs878853328
NM_006269.2(RP1):c.2083del (p.Ile695fs)	rs1554519538
NM_006269.2(RP1):c.2206dup (p.Thr736fs)	rs1554519554
NM_006269.2(RP1):c.2219C>G (p.Ser740Ter)	rs1554519555
NM_006269.2(RP1):c.2321del (p.Leu773_Leu774insTer)	rs1554519577
NM_006269.2(RP1):c.2596_2597del (p.Leu866fs)	rs1554519635
NM_006269.2(RP1):c.2656C>T (p.Gln886Ter)	rs1554519651

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