ClinVar Miner

List of variants in gene C12orf29, CEP290 studied for Joubert syndrome

Included ClinVar conditions (64):
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Total variants: 27
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HGVS dbSNP
NM_001009894.3(C12orf29):c.*618_*621TATT[1] rs886049876
NM_025114.3(CEP290):c.4438-318_7243del
NM_025114.4(CEP290):c.*151T>C
NM_025114.4(CEP290):c.*168A>G
NM_025114.4(CEP290):c.*19_*22del rs142288119
NM_025114.4(CEP290):c.7220_7223del (p.Lys2407fs) rs763762899
NM_025114.4(CEP290):c.7233dup (p.Glu2412fs)
NM_025114.4(CEP290):c.7240G>A (p.Glu2414Lys)
NM_025114.4(CEP290):c.7276G>A (p.Asp2426Asn) rs200178519
NM_025114.4(CEP290):c.7283_7286dup (p.Tyr2429Ter)
NM_025114.4(CEP290):c.7293C>T (p.Tyr2431=) rs1397480003
NM_025114.4(CEP290):c.7311G>T (p.Lys2437Asn) rs534440681
NM_025114.4(CEP290):c.7323_7327AGAAG[1] (p.Glu2443fs)
NM_025114.4(CEP290):c.7323_7327AGAAG[3] (p.Val2445fs) rs747138345
NM_025114.4(CEP290):c.7333G>A (p.Val2445Ile)
NM_025114.4(CEP290):c.7340A>C (p.Lys2447Thr)
NM_025114.4(CEP290):c.7341_7344dup (p.Ser2449fs)
NM_025114.4(CEP290):c.7341dup (p.Leu2448fs) rs281865189
NM_025114.4(CEP290):c.7365A>G (p.Glu2455=) rs765709669
NM_025114.4(CEP290):c.7370C>T (p.Thr2457Ile)
NM_025114.4(CEP290):c.7372A>G (p.Ser2458Gly)
NM_025114.4(CEP290):c.7375C>T (p.Pro2459Ser) rs754398792
NM_025114.4(CEP290):c.7392_7393AG[1] (p.Glu2465fs) rs569673313
NM_025114.4(CEP290):c.7392_7393insCA (p.Glu2465fs)
NM_025114.4(CEP290):c.7397T>C (p.Phe2466Ser)
NM_025114.4(CEP290):c.7405GAA[2] (p.Glu2471del)
NM_025114.4(CEP290):c.7416T>A (p.Ser2472Arg) rs794727762

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