ClinVar Miner

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

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Total variants: 9
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HGVS dbSNP
NM_020366.3(RPGRIP1):c.1639G>T (p.Ala547Ser) rs10151259
NM_020366.3(RPGRIP1):c.1793G>A (p.Arg598Gln) rs74034910
NM_020366.3(RPGRIP1):c.2012G>A (p.Gly671Glu)
NM_020366.3(RPGRIP1):c.2417C>T (p.Thr806Ile) rs142796310
NM_020366.3(RPGRIP1):c.2468A>G (p.Tyr823Cys)
NM_020366.3(RPGRIP1):c.2759_2760insT (p.Gln920fs)
NM_020366.3(RPGRIP1):c.2941C>T (p.Arg981Ter) rs780667159
NM_020366.3(RPGRIP1):c.800+1G>A
NM_020366.3(RPGRIP1):c.800G>A (p.Arg267Gln)

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