ClinVar Miner

List of variants reported as pathogenic for Leber congenital amaurosis 10

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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CEP290, 4-BP DEL, 384TAGA
CEP290, 5-BP DEL, 1260TAAAG
NM_025114.4(CEP290):c.1066-1G>A rs965522059
NM_025114.4(CEP290):c.1078C>T (p.Arg360Ter) rs776645403
NM_025114.4(CEP290):c.1429C>T (p.Arg477Ter) rs1170451277
NM_025114.4(CEP290):c.1711+1G>A rs587783009
NM_025114.4(CEP290):c.2248_2249del (p.Leu750fs) rs587783010
NM_025114.4(CEP290):c.2249T>G (p.Leu750Ter) rs137852833
NM_025114.4(CEP290):c.2991+1655A>G rs281865192
NM_025114.4(CEP290):c.3904C>T (p.Gln1302Ter) rs587783016
NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter) rs539400286
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter) rs137852834
NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter) rs376493409
NM_025114.4(CEP290):c.4960C>T (p.Gln1654Ter) rs1226324483
NM_025114.4(CEP290):c.5344C>T (p.Arg1782Ter) rs575767207
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832
NM_025114.4(CEP290):c.6869dup (p.Asn2290fs) rs587783017

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