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
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Total variants: 7

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HGVS	dbSNP
NM_020366.3(RPGRIP1):c.1116del (p.Lys372fs)	rs776880045
NM_020366.3(RPGRIP1):c.2941C>T (p.Arg981Ter)	rs780667159
NM_020366.3(RPGRIP1):c.3120G>A (p.Trp1040Ter)	rs1555303320
NM_020366.3(RPGRIP1):c.673del (p.His225fs)	rs752263228
NM_020366.3(RPGRIP1):c.900_906+14delTCAAGAGGTGAGTTGCCATCA	rs886039911
NM_020366.3(RPGRIP1):c.931-2A>G
Single allele

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