List of variants in gene RP1 reported as likely pathogenic for not provided

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: 15

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HGVS	dbSNP	gnomAD frequency
NM_006269.2(RP1):c.615+2T>A	rs776027191	0.00001
NM_006269.2(RP1):c.1719_1723del (p.Ser574fs)	rs750542962
NM_006269.2(RP1):c.2025dup (p.Ser676fs)	rs1365669334
NM_006269.2(RP1):c.2035C>T (p.Gln679Ter)	rs104894083
NM_006269.2(RP1):c.2161del (p.Gly723fs)	rs755429480
NM_006269.2(RP1):c.2167G>T (p.Gly723Ter)	rs1585563283
NM_006269.2(RP1):c.2173_2174delinsG (p.Ile725fs)	rs2129316468
NM_006269.2(RP1):c.2219C>G (p.Ser740Ter)	rs1554519555
NM_006269.2(RP1):c.2296C>T (p.Gln766Ter)	rs775731489
NM_006269.2(RP1):c.2305A>T (p.Lys769Ter)	rs1488237523
NM_006269.2(RP1):c.2391_2392del (p.Arg798_Asp799insTer)
NM_006269.2(RP1):c.2700dup (p.Pro901fs)	rs797044735
NM_006269.2(RP1):c.3690del (p.Gly1231fs)	rs1554519822
NM_006269.2(RP1):c.607G>A (p.Gly203Arg)	rs786205589
NM_006269.2(RP1):c.668del (p.Gly223fs)	rs1231321479

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