ClinVar Miner

List of variants in gene combination CEP290, RLIG1 reported as uncertain significance for Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_025114.4(CEP290):c.7276G>A (p.Asp2426Asn) rs200178519 0.00021
NM_025114.4(CEP290):c.7340A>C (p.Lys2447Thr) rs201382524 0.00006
NM_025114.4(CEP290):c.7375C>T (p.Pro2459Ser) rs754398792 0.00003
NM_025114.4(CEP290):c.7397T>A (p.Phe2466Tyr) rs1159836808 0.00003
NM_025114.4(CEP290):c.7416T>A (p.Ser2472Arg) rs794727762 0.00003
NM_001009894.3(RLIG1):c.*1008T>C rs762987255 0.00001
NM_025114.4(CEP290):c.7213G>A (p.Glu2405Lys) rs1393659962 0.00001
NM_025114.4(CEP290):c.7240G>A (p.Glu2414Lys) rs1233939358 0.00001
NM_025114.4(CEP290):c.7311G>T (p.Lys2437Asn) rs534440681 0.00001
NM_025114.4(CEP290):c.7333G>A (p.Val2445Ile) rs756042946 0.00001
NM_025114.4(CEP290):c.7372A>G (p.Ser2458Gly) rs762238709 0.00001
NC_000012.11:g.(?_88442955)_(88449500_?)dup
NC_000012.11:g.(?_88442961)_(88449494_?)dup
NM_001009894.3(RLIG1):c.*995A>C
NM_025114.4(CEP290):c.7222A>C (p.Lys2408Gln)
NM_025114.4(CEP290):c.7237C>A (p.Leu2413Met) rs2136547632
NM_025114.4(CEP290):c.7243A>G (p.Asn2415Asp)
NM_025114.4(CEP290):c.7256C>T (p.Ser2419Leu) rs2136547201
NM_025114.4(CEP290):c.7282_7284dup (p.Lys2428_Tyr2429insLys)
NM_025114.4(CEP290):c.7303G>A (p.Val2435Met) rs2136546112
NM_025114.4(CEP290):c.7305GAA[2] (p.Lys2437del) rs768777116
NM_025114.4(CEP290):c.7305GAA[4] (p.Lys2437_Asn2438insLys)
NM_025114.4(CEP290):c.7316T>C (p.Ile2439Thr)
NM_025114.4(CEP290):c.7358_7359delinsAG (p.Gly2453Glu)
NM_025114.4(CEP290):c.7370C>T (p.Thr2457Ile) rs2033234687
NM_025114.4(CEP290):c.7381GCT[1] (p.Ala2462del) rs1345322609
NM_025114.4(CEP290):c.7392_7393insCA (p.Glu2465fs) rs757255407
NM_025114.4(CEP290):c.7393_7395dup (p.Glu2465_Phe2466insGlu)
NM_025114.4(CEP290):c.7394_7397dup (p.Phe2466fs)
NM_025114.4(CEP290):c.7397T>C (p.Phe2466Ser) rs1159836808
NM_025114.4(CEP290):c.7405GAA[2] (p.Glu2471del) rs777398895
NM_025114.4(CEP290):c.7411G>A (p.Glu2471Lys)
NM_025114.4(CEP290):c.7411_7412del (p.Glu2471fs) rs1368325179
NM_025114.4(CEP290):c.7430C>G (p.Pro2477Arg) rs2033224468

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