ClinVar Miner

List of variants in gene CEP290 reported as likely benign for not provided

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Gene type:
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Total variants: 25
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HGVS dbSNP
NC_000012.12:g.88077266C>G
NC_000012.12:g.88082889T>C
NC_000012.12:g.88084865A>G
NC_000012.12:g.88085964_88085967del
NC_000012.12:g.88086839G>A
NC_000012.12:g.88089085T>C
NC_000012.12:g.88117018A>G
NC_000012.12:g.88118475G>A
NC_000012.12:g.88120108G>A
NC_000012.12:g.88129888_88129889del
NC_000012.12:g.88139109T>C
NC_000012.12:g.88139284T>C
NM_025114.3(CEP290):c.1079G>A (p.Arg360Gln) rs188164241
NM_025114.3(CEP290):c.1199C>T (p.Thr400Ile) rs773578133
NM_025114.3(CEP290):c.1825-13_1825-12delCT rs367600498
NM_025114.3(CEP290):c.2484-8_2484-4dupGTTTT rs745522483
NM_025114.3(CEP290):c.3955T>C (p.Leu1319=) rs182851622
NM_025114.3(CEP290):c.4237G>C (p.Asp1413His) rs183655276
NM_025114.3(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020
NM_025114.3(CEP290):c.523C>A (p.Gln175Lys) rs202159966
NM_025114.3(CEP290):c.5322C>T (p.Leu1774=) rs117370446
NM_025114.3(CEP290):c.5506A>G (p.Ile1836Val) rs11104729
NM_025114.3(CEP290):c.6401T>C (p.Ile2134Thr) rs117852025
NM_025114.3(CEP290):c.6787A>G (p.Ser2263Gly) rs77778467
NM_025114.3(CEP290):c.829G>C (p.Glu277Gln) rs45502896

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