ClinVar Miner

List of variants in gene CEP290, RLIG1 studied for CEP290-related ciliopathy

Included ClinVar conditions (17):
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Gene type:
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Total variants: 44
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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.*168A>G rs376016171 0.00014
NM_025114.4(CEP290):c.7340A>C (p.Lys2447Thr) rs201382524 0.00006
NM_025114.4(CEP290):c.7365A>G (p.Glu2455=) rs765709669 0.00004
NM_025114.4(CEP290):c.7397T>A (p.Phe2466Tyr) rs1159836808 0.00003
NM_025114.4(CEP290):c.7282_7283dup (p.Tyr2429fs) rs767231715 0.00002
NM_025114.4(CEP290):c.7287T>A (p.Tyr2429Ter) rs775189201 0.00002
NM_025114.4(CEP290):c.*151T>C rs2033206514 0.00001
NM_025114.4(CEP290):c.7311G>T (p.Lys2437Asn) rs534440681 0.00001
NM_025114.4(CEP290):c.7324G>T (p.Glu2442Ter) rs1374014119 0.00001
NM_025114.4(CEP290):c.7375C>T (p.Pro2459Ser) rs754398792 0.00001
NM_025114.4(CEP290):c.7416T>A (p.Ser2472Arg) rs794727762 0.00001
NM_025114.4(CEP290):c.7219AAG[1] (p.Lys2408del)
NM_025114.4(CEP290):c.7220_7223del (p.Lys2407fs) rs763762899
NM_025114.4(CEP290):c.7222A>C (p.Lys2408Gln)
NM_025114.4(CEP290):c.7233del (p.Glu2412fs) rs2033254449
NM_025114.4(CEP290):c.7233dup (p.Glu2412fs) rs2033254449
NM_025114.4(CEP290):c.7234del (p.Glu2412fs) rs2136547710
NM_025114.4(CEP290):c.7240G>T (p.Glu2414Ter)
NM_025114.4(CEP290):c.7248del (p.Phe2416fs)
NM_025114.4(CEP290):c.7256C>G (p.Ser2419Ter)
NM_025114.4(CEP290):c.7256_7259del (p.Ser2419fs)
NM_025114.4(CEP290):c.7256del (p.Ser2419fs)
NM_025114.4(CEP290):c.7263del (p.Phe2421fs)
NM_025114.4(CEP290):c.7263dup (p.Glu2422Ter) rs1219184437
NM_025114.4(CEP290):c.7282_7286dup (p.Tyr2429Ter) rs2136546576
NM_025114.4(CEP290):c.7283_7286dup (p.Tyr2429Ter) rs773642187
NM_025114.4(CEP290):c.7288_7289dup (p.Asn2430fs) rs1482471100
NM_025114.4(CEP290):c.7305GAA[2] (p.Lys2437del) rs768777116
NM_025114.4(CEP290):c.7308G>T (p.Lys2436Asn)
NM_025114.4(CEP290):c.7311del (p.Asn2438fs)
NM_025114.4(CEP290):c.7320_7321del (p.Leu2441fs)
NM_025114.4(CEP290):c.7327_7330delinsTATT (p.Glu2443_Lys2444delinsTyrTer)
NM_025114.4(CEP290):c.7328_7332del (p.Glu2443fs) rs747138345
NM_025114.4(CEP290):c.7328_7332dup (p.Val2445fs) rs747138345
NM_025114.4(CEP290):c.7334dup (p.Leu2448fs)
NM_025114.4(CEP290):c.7341del (p.Lys2447fs) rs281865189
NM_025114.4(CEP290):c.7341dup (p.Leu2448fs) rs281865189
NM_025114.4(CEP290):c.7388C>T (p.Ser2463Phe)
NM_025114.4(CEP290):c.7392_7393insCA (p.Glu2465fs) rs757255407
NM_025114.4(CEP290):c.7394_7395del (p.Glu2465fs) rs569673313
NM_025114.4(CEP290):c.7408G>A (p.Glu2470Lys)
NM_025114.4(CEP290):c.7411G>A (p.Glu2471Lys)
NM_025114.4(CEP290):c.7429C>G (p.Pro2477Ala)

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