ClinVar Miner

List of variants reported as likely pathogenic for Leber congenital amaurosis by NIHR Bioresource Rare Diseases,University of Cambridge

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP
NM_000180.3(GUCY2D):c.3098_3099insCGTGCTCT (p.Gly1034Valfs) rs1555635925
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp) rs61751404
NM_001023570.4(IQCB1):c.214C>T (p.Arg72Ter) rs201405662
NM_001023570.4(IQCB1):c.260T>G (p.Leu87Ter) rs1553722736
NM_020366.3(RPGRIP1):c.1116del (p.Lys372fs) rs776880045
NM_020366.3(RPGRIP1):c.2941C>T (p.Arg981Ter) rs780667159
NM_020366.3(RPGRIP1):c.3120G>A (p.Trp1040Ter) rs1555303320
NM_022787.4(NMNAT1):c.155G>T (p.Gly52Val) rs768528387
NM_022787.4(NMNAT1):c.485C>A (p.Ser162Tyr) rs1553128102
NM_022787.4(NMNAT1):c.661dup (p.Ile221fs) rs775978677
NM_022787.4(NMNAT1):c.736G>C (p.Glu246Gln) rs747653875
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys) rs150726175
NM_025114.3(CEP290):c.21G>T (p.Trp7Cys) rs62635288
NM_201253.3(CRB1):c.1183G>T (p.Glu395Ter) rs369775002
NM_201253.3(CRB1):c.2220dup (p.Met741fs) rs1553261468
Single allele

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