List of variants reported as pathogenic for cone-rod dystrophy 13 by Genome-Nilou Lab

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_020366.4(RPGRIP1):c.154C>T (p.Arg52Ter)	rs192003551	0.00004
NM_020366.4(RPGRIP1):c.2302C>T (p.Arg768Ter)	rs75459701	0.00004
NM_020366.4(RPGRIP1):c.1892A>G (p.His631Arg)	rs535922252	0.00002
NM_020366.4(RPGRIP1):c.2440C>T (p.Arg814Ter)	rs759940113	0.00001
NM_020366.4(RPGRIP1):c.2554C>T (p.Arg852Ter)	rs1429786931	0.00001
NM_020366.4(RPGRIP1):c.2775G>A (p.Trp925Ter)	rs398124354	0.00001
NM_020366.4(RPGRIP1):c.3565C>T (p.Arg1189Ter)	rs752175052	0.00001
NM_020366.4(RPGRIP1):c.800+1G>A	rs376500610	0.00001
NM_020366.4(RPGRIP1):c.1107del (p.Glu370fs)	rs61751266
NM_020366.4(RPGRIP1):c.2368-2A>G	rs1064797182
NM_020366.4(RPGRIP1):c.2465_2468dup (p.Ala824fs)	rs745741473
NM_020366.4(RPGRIP1):c.2718dup (p.Asn907Ter)	rs776289402
NM_020366.4(RPGRIP1):c.2941C>T (p.Arg981Ter)	rs780667159
NM_020366.4(RPGRIP1):c.3618-1_3621del	rs1594280740
NM_020366.4(RPGRIP1):c.673del (p.His225fs)	rs752263228

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