List of variants in gene RPGRIP1 reported as pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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: 7

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HGVS	dbSNP	gnomAD frequency
NM_020366.4(RPGRIP1):c.1468-2A>G	rs751342895	0.00004
NM_020366.4(RPGRIP1):c.2398G>A (p.Glu800Lys)	rs565837539	0.00002
NM_020366.4(RPGRIP1):c.2465_2468dup (p.Ala824fs)	rs745741473	0.00001
NM_020366.4(RPGRIP1):c.2895+1G>T	rs748072501	0.00001
NM_020366.4(RPGRIP1):c.1216del (p.Leu406fs)	rs1439947338
NM_020366.4(RPGRIP1):c.2367+23del	rs781728563
NM_020366.4(RPGRIP1):c.2976_2979del (p.Lys993fs)

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