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

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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.1792C>T (p.Arg598Ter)	rs775935766	0.00002
NM_020366.4(RPGRIP1):c.2398G>A (p.Glu800Lys)	rs565837539	0.00002
NM_020366.4(RPGRIP1):c.1116del (p.Lys372fs)	rs776880045
NM_020366.4(RPGRIP1):c.1152-1749_1763-1241del
NM_020366.4(RPGRIP1):c.1615_1624del (p.Glu539fs)	rs1420750126
NM_020366.4(RPGRIP1):c.2941C>T (p.Arg981Ter)	rs780667159
NM_020366.4(RPGRIP1):c.3120G>A (p.Trp1040Ter)	rs1555303320
NM_020366.4(RPGRIP1):c.3620T>G (p.Leu1207Ter)

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