List of variants in gene RP1 reported as likely pathogenic by Blueprint Genetics

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: 16

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HGVS	dbSNP	gnomAD frequency
NM_006269.2(RP1):c.1186C>T (p.Arg396Ter)	rs201493928	0.00005
NM_006269.2(RP1):c.121T>C (p.Tyr41His)	rs746359399	0.00004
NM_006269.2(RP1):c.1721C>G (p.Ser574Ter)	rs1806020324
NM_006269.2(RP1):c.2219C>A (p.Ser740Ter)	rs1554519555
NM_006269.2(RP1):c.2232T>A (p.Cys744Ter)	rs1806037949
NM_006269.2(RP1):c.2305A>T (p.Lys769Ter)	rs1488237523
NM_006269.2(RP1):c.2360T>A (p.Leu787Ter)	rs1806043158
NM_006269.2(RP1):c.2430C>A (p.Cys810Ter)	rs1230883512
NM_006269.2(RP1):c.2613dup (p.Arg872fs)	rs1449723475
NM_006269.2(RP1):c.2656C>T (p.Gln886Ter)	rs1554519651
NM_006269.2(RP1):c.2671del (p.Arg891fs)	rs1806057300
NM_006269.2(RP1):c.2756G>A (p.Trp919Ter)	rs779290365
NM_006269.2(RP1):c.2757G>A (p.Trp919Ter)	rs746396730
NM_006269.2(RP1):c.3150dup (p.Leu1051fs)	rs1806079331
NM_006269.2(RP1):c.4327C>T (p.Arg1443Trp)	rs373109791
NM_006269.2(RP1):c.668del (p.Gly223fs)	rs1231321479

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