ClinVar Miner

List of variants in gene CEP290 reported as pathogenic by UW Hindbrain Malformation Research Program,University of Washington

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Total variants: 30
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HGVS dbSNP
NM_025114.3(CEP290):c.103-1G>T rs863225188
NM_025114.3(CEP290):c.1219_1220delAT (p.Met407Glufs) rs386834148
NM_025114.3(CEP290):c.1623+1G>A rs863225186
NM_025114.3(CEP290):c.164_167delCTCA (p.Thr55Serfs) rs758550675
NM_025114.3(CEP290):c.1666delA (p.Ile556Phefs) rs727503855
NM_025114.3(CEP290):c.1666dupA (p.Ile556Asnfs) rs727503855
NM_025114.3(CEP290):c.1984C>T (p.Gln662Ter) rs386834152
NM_025114.3(CEP290):c.2112delA (p.Val705Leufs) rs863225183
NM_025114.3(CEP290):c.21G>T (p.Trp7Cys) rs62635288
NM_025114.3(CEP290):c.2343T>C (p.Asn781=) rs748034744
NM_025114.3(CEP290):c.3175dupA (p.Ile1059Asnfs) rs62640570
NM_025114.3(CEP290):c.3176delT (p.Ile1059Lysfs) rs863225184
NM_025114.3(CEP290):c.3185delT (p.Leu1062Argfs) rs863225189
NM_025114.3(CEP290):c.3904C>T (p.Gln1302Ter) rs587783016
NM_025114.3(CEP290):c.4384delG (p.Glu1462Argfs) rs863225182
NM_025114.3(CEP290):c.4393C>T (p.Arg1465Ter) rs539400286
NM_025114.3(CEP290):c.4452_4455delAGAA (p.Lys1484Asnfs) rs780624853
NM_025114.3(CEP290):c.4522C>T (p.Arg1508Ter) rs749439750
NM_025114.3(CEP290):c.4723A>T (p.Lys1575Ter) rs137852834
NM_025114.3(CEP290):c.4882C>T (p.Gln1628Ter) rs376493409
NM_025114.3(CEP290):c.4966_4967delGA (p.Glu1656Asnfs) rs756302731
NM_025114.3(CEP290):c.5344C>T (p.Arg1782Ter) rs575767207
NM_025114.3(CEP290):c.5611_5614delCAAA (p.Gln1871Valfs) rs727503853
NM_025114.3(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832
NM_025114.3(CEP290):c.5704G>T (p.Glu1902Ter) rs267606719
NM_025114.3(CEP290):c.5932C>T (p.Arg1978Ter) rs371525247
NM_025114.3(CEP290):c.6072C>A (p.Tyr2024Ter) rs779262951
NM_025114.3(CEP290):c.6277delG (p.Val2093Serfs) rs771454167
NM_025114.3(CEP290):c.654T>G (p.Tyr218Ter) rs863225185
NM_025114.3(CEP290):c.6939C>A (p.Tyr2313Ter) rs863225187

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