ClinVar Miner

List of variants in gene C12orf29, CEP290 studied for Meckel syndrome, type 1

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_025114.3(CEP290):c.*143_*146delTAAA rs886049876
NM_025114.3(CEP290):c.*19_*22delGTTT rs142288119
NM_025114.3(CEP290):c.7276G>A (p.Asp2426Asn) rs200178519
NM_025114.3(CEP290):c.7311G>T (p.Lys2437Asn) rs534440681
NM_025114.3(CEP290):c.7365A>G (p.Glu2455=) rs765709669
NM_025114.3(CEP290):c.7375C>T (p.Pro2459Ser) rs754398792

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