List of variants in gene RPGRIP1 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: 8

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HGVS	dbSNP	gnomAD frequency
NM_020366.4(RPGRIP1):c.2554C>T (p.Arg852Ter)	rs1429786931	0.00001
NM_020366.4(RPGRIP1):c.1773dup (p.Asp592fs)	rs1882854195
NM_020366.4(RPGRIP1):c.2230G>T (p.Glu744Ter)	rs1882945917
NM_020366.4(RPGRIP1):c.2406G>A (p.Trp802Ter)	rs1883031542
NM_020366.4(RPGRIP1):c.2441del (p.Arg814fs)	rs1739469293
NM_020366.4(RPGRIP1):c.2465_2468dup (p.Ala824fs)	rs745741473
NM_020366.4(RPGRIP1):c.3618-1_3621del	rs1594280740
NM_020366.4(RPGRIP1):c.673del (p.His225fs)	rs752263228

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