List of variants in gene RPGRIP1 studied for Leber congenital amaurosis 1

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_020366.4(RPGRIP1):c.1639G>T (p.Ala547Ser)	rs10151259	0.21481
NM_020366.4(RPGRIP1):c.1793G>A (p.Arg598Gln)	rs74034910	0.01504
NM_020366.4(RPGRIP1):c.2417C>T (p.Thr806Ile)	rs142796310	0.01022
NM_020366.4(RPGRIP1):c.2012G>A (p.Gly671Glu)	rs1348186141	0.00001
NM_020366.4(RPGRIP1):c.2941C>T (p.Arg981Ter)	rs780667159	0.00001
NM_020366.4(RPGRIP1):c.800+1G>A	rs376500610	0.00001
NM_020366.4(RPGRIP1):c.800G>A (p.Arg267Gln)	rs758239674	0.00001
NM_020366.4(RPGRIP1):c.2468A>G (p.Tyr823Cys)	rs751521888
NM_020366.4(RPGRIP1):c.2759_2760insT (p.Gln920fs)	rs61751270

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