ClinVar Miner

List of variants studied for Leber congenital amaurosis 6 by OMIM

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_020366.3(RPGRIP1):c.1107del (p.Glu370fs) rs61751266
NM_020366.3(RPGRIP1):c.194G>A (p.Trp65Ter) rs137853124
NM_020366.3(RPGRIP1):c.3341A>G (p.Asp1114Gly) rs17103671
RPGRIP1, 1-BP DEL, ASP1176
RPGRIP1, 1-BP DEL, LYS342
RPGRIP1, 1-BP INS, GLN893
RPGRIP1, 3-BP DEL, 3835GAG

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