List of variants in gene RPGRIP1 reported as likely pathogenic for Leber congenital amaurosis 6

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_020366.4(RPGRIP1):c.3749-2A>G	rs376517859	0.00004
NM_020366.4(RPGRIP1):c.1792C>T (p.Arg598Ter)	rs775935766	0.00002
NM_020366.4(RPGRIP1):c.2662C>T (p.Arg888Ter)	rs1030149008	0.00002
NM_020366.4(RPGRIP1):c.2988del (p.Glu996fs)	rs765001696	0.00001
NM_020366.4(RPGRIP1):c.1611+27G>A	rs1594203796
NM_020366.4(RPGRIP1):c.2237G>A (p.Gly746Glu)	rs61751268
NM_020366.4(RPGRIP1):c.2367+23del	rs781728563
NM_020366.4(RPGRIP1):c.3679G>A (p.Gly1227Arg)	rs1885763952
NM_020366.4(RPGRIP1):c.521C>G (p.Pro174Arg)	rs780733881
NM_020366.4(RPGRIP1):c.673del (p.His225fs)	rs752263228
NM_020366.4(RPGRIP1):c.772G>T (p.Glu258Ter)	rs2139160690
NM_020366.4(RPGRIP1):c.903_906+17del	rs886039911
NM_020366.4(RPGRIP1):c.906+2T>G	rs1594180201

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