ClinVar Miner

List of variants in gene CEP290 reported as uncertain significance by CeGaT Praxis fuer Humangenetik Tuebingen

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Total variants: 9
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HGVS dbSNP
NM_025114.3(CEP290):c.1079G>A (p.Arg360Gln) rs188164241
NM_025114.3(CEP290):c.2817+4C>T rs768895932
NM_025114.3(CEP290):c.3107A>G (p.Asn1036Ser) rs1064797172
NM_025114.3(CEP290):c.3593C>T (p.Ser1198Leu) rs372640024
NM_025114.3(CEP290):c.4237G>C (p.Asp1413His) rs183655276
NM_025114.3(CEP290):c.43C>G (p.Pro15Ala) rs1425716932
NM_025114.3(CEP290):c.4654_4659del (p.Lys1552_Glu1553del) rs1555207186
NM_025114.3(CEP290):c.6646-11T>G rs1431021703
NM_025114.3(CEP290):c.852+3A>G rs1555225551

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