ClinVar Miner

List of variants studied for Leber congenital amaurosis 6 by Broad Institute Rare Disease Group,Broad Institute

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.1468-263G>C rs1594202505
NM_020366.3(RPGRIP1):c.1611+27G>A rs1594203796
NM_020366.3(RPGRIP1):c.2367+23del rs781728563
NM_020366.3(RPGRIP1):c.3238+1G>A rs1325103400
NM_020366.3(RPGRIP1):c.3618-1_3621del rs1594280740
NM_020366.3(RPGRIP1):c.3793_3794insGAAA (p.Val1265fs) rs1468976582
NM_020366.3(RPGRIP1):c.895_896del (p.Glu299fs) rs1594180177

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