List of variants in gene RPGRIP1 reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

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.2662C>T (p.Arg888Ter)	rs1030149008	0.00002
NM_020366.4(RPGRIP1):c.1615_1624del (p.Glu539fs)	rs1420750126
NM_020366.4(RPGRIP1):c.1621G>T (p.Glu541Ter)
NM_020366.4(RPGRIP1):c.218+2T>A
NM_020366.4(RPGRIP1):c.2367+1G>A	rs1882968821
NM_020366.4(RPGRIP1):c.2608_2609insA (p.Leu870fs)	rs878853389
NM_020366.4(RPGRIP1):c.3239-1_3241del	rs1884133804
NM_020366.4(RPGRIP1):c.676dup (p.Ile226fs)	rs1881125294

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