List of variants in gene RP1 reported as pathogenic by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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_006269.2(RP1):c.1451C>A (p.Ser484Ter)	rs1563329888
NM_006269.2(RP1):c.2029C>T (p.Arg677Ter)	rs104894082
NM_006269.2(RP1):c.2335del (p.Ser779fs)	rs1563330595
NM_006269.2(RP1):c.2732C>G (p.Ser911Ter)	rs1348591614
NM_006269.2(RP1):c.368_369dup (p.Pro124fs)	rs1246397238
NM_006269.2(RP1):c.3843del (p.Pro1282fs)	rs769601671

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