ClinVar Miner

List of variants in gene combination CEP290, RLIG1 reported as likely benign for Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_025114.4(CEP290):c.7365A>G (p.Glu2455=) rs765709669 0.00003
NM_025114.4(CEP290):c.7210-5A>T rs2033257006 0.00001
NM_025114.4(CEP290):c.7293C>T (p.Tyr2431=) rs1397480003 0.00001
NM_025114.4(CEP290):c.7335A>C (p.Val2445=) rs565729847 0.00001
NM_025114.4(CEP290):c.7341A>G (p.Lys2447=) rs1415533078 0.00001
NM_025114.4(CEP290):c.7422T>C (p.Val2474=) rs1161343186 0.00001
NM_025114.4(CEP290):c.7210-14_7210-12dup rs1397674495
NM_025114.4(CEP290):c.7210-18_7210-13del rs753383814
NM_025114.4(CEP290):c.7212G>A (p.Glu2404=) rs1592705118
NM_025114.4(CEP290):c.7233A>G (p.Lys2411=) rs1443360393
NM_025114.4(CEP290):c.7239G>C (p.Leu2413=) rs2136547545
NM_025114.4(CEP290):c.7251T>C (p.Asp2417=) rs2136547270
NM_025114.4(CEP290):c.7257A>C (p.Ser2419=) rs2033251374
NM_025114.4(CEP290):c.7275A>G (p.Glu2425=) rs2136546932
NM_025114.4(CEP290):c.7284G>A (p.Lys2428=) rs2033247646
NM_025114.4(CEP290):c.7305G>C (p.Val2435=) rs745414652
NM_025114.4(CEP290):c.7308G>A (p.Lys2436=) rs2136545903
NM_025114.4(CEP290):c.7314T>C (p.Asn2438=) rs1555193066
NM_025114.4(CEP290):c.7317T>A (p.Ile2439=) rs2499340304
NM_025114.4(CEP290):c.7329G>A (p.Glu2443=) rs1592704594
NM_025114.4(CEP290):c.7347A>G (p.Ser2449=) rs1296518157
NM_025114.4(CEP290):c.7354T>C (p.Leu2452=) rs2136544711
NM_025114.4(CEP290):c.7366T>C (p.Leu2456=) rs1248803237
NM_025114.4(CEP290):c.7374C>T (p.Ser2458=) rs2499337369
NM_025114.4(CEP290):c.7380T>A (p.Val2460=) rs2499337112
NM_025114.4(CEP290):c.7386T>G (p.Ala2462=) rs2499336754
NM_025114.4(CEP290):c.7389T>C (p.Ser2463=)
NM_025114.4(CEP290):c.7416T>C (p.Ser2472=) rs794727762
NM_025114.4(CEP290):c.7425T>C (p.Asn2475=) rs2136543130
NM_025114.4(CEP290):c.7437C>T (p.Tyr2479=) rs2136542833

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