ClinVar Miner

List of variants in gene combination C12orf29, CEP290 reported as uncertain significance for Joubert syndrome

Included ClinVar conditions (64):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 17
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NM_001009894.3(C12orf29):c.*618_*621TATT[1] rs886049876
NM_025114.4(CEP290):c.7240G>A (p.Glu2414Lys)
NM_025114.4(CEP290):c.7276G>A (p.Asp2426Asn) rs200178519
NM_025114.4(CEP290):c.7311G>T (p.Lys2437Asn) rs534440681
NM_025114.4(CEP290):c.7333G>A (p.Val2445Ile)
NM_025114.4(CEP290):c.7340A>C (p.Lys2447Thr)
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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