ClinVar Miner

List of variants in gene RPGRIP1 reported as pathogenic for Leber congenital amaurosis 6

Included ClinVar conditions (3):
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Gene type:
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Total variants: 26
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HGVS dbSNP
NC_000014.9:g.(?_21317696)_(21320177_?)del
NM_020366.3(RPGRIP1):c.1107del (p.Glu370fs) rs61751266
NM_020366.3(RPGRIP1):c.1468-263G>C rs1594202505
NM_020366.3(RPGRIP1):c.1892A>G (p.His631Arg)
NM_020366.3(RPGRIP1):c.1892A>T (p.His631Leu) rs535922252
NM_020366.3(RPGRIP1):c.194G>A (p.Trp65Ter) rs137853124
NM_020366.3(RPGRIP1):c.2017C>T (p.Gln673Ter) rs1566341956
NM_020366.3(RPGRIP1):c.2302C>T (p.Arg768Ter) rs75459701
NM_020366.3(RPGRIP1):c.2356C>T (p.Gln786Ter) rs587783019
NM_020366.3(RPGRIP1):c.2440C>T (p.Arg814Ter) rs759940113
NM_020366.3(RPGRIP1):c.2465_2468dup (p.Ala824fs)
NM_020366.3(RPGRIP1):c.2718dup (p.Asn907Ter) rs776289402
NM_020366.3(RPGRIP1):c.3238+1G>A rs1325103400
NM_020366.3(RPGRIP1):c.3341A>G (p.Asp1114Gly) rs17103671
NM_020366.3(RPGRIP1):c.3467_3468insCT (p.Thr1156_Glu1157insTer) rs776698746
NM_020366.3(RPGRIP1):c.3565_3571del (p.Arg1189fs) rs587783012
NM_020366.3(RPGRIP1):c.3617+1G>A rs771116776
NM_020366.3(RPGRIP1):c.3618-1_3621del rs1594280740
NM_020366.3(RPGRIP1):c.799C>T (p.Arg267Ter) rs554396590
NM_020366.3(RPGRIP1):c.801-25_843del rs1566674809
NM_020366.3(RPGRIP1):c.832C>T (p.Arg278Ter) rs587783018
NM_020366.3(RPGRIP1):c.895_896del (p.Glu299fs) rs1594180177
RPGRIP1, 1-BP DEL, ASP1176
RPGRIP1, 1-BP DEL, LYS342
RPGRIP1, 1-BP INS, GLN893
RPGRIP1, 3-BP DEL, 3835GAG

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