ClinVar Miner

List of variants in gene CEP120 reported as pathogenic for ciliopathy

Included ClinVar conditions (273):
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Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001375405.1(CEP120):c.2134C>T (p.Leu712Phe) rs114280473 0.00417
NM_001375405.1(CEP120):c.595G>C (p.Ala199Pro) rs367600930 0.00003
NM_001375405.1(CEP120):c.2323C>T (p.Gln775Ter) rs759125480 0.00002
NM_001375405.1(CEP120):c.1646C>T (p.Ala549Val) rs775080726 0.00001
NM_001375405.1(CEP120):c.451C>T (p.Arg151Ter) rs757499322 0.00001
NC_000005.9:g.(?_122682213)_(122758692_?)del
NM_001375405.1(CEP120):c.1028dup (p.Asp344fs) rs2127071022
NM_001375405.1(CEP120):c.1138_1139insA (p.Ser380fs) rs1554103267
NM_001375405.1(CEP120):c.1397del (p.Leu466fs) rs781434539
NM_001375405.1(CEP120):c.1558C>T (p.Gln520Ter) rs2127059805
NM_001375405.1(CEP120):c.1684dup (p.Thr562fs) rs2127055990
NM_001375405.1(CEP120):c.2164C>T (p.Arg722Ter)
NM_001375405.1(CEP120):c.2177T>C (p.Leu726Pro) rs1554102026
NM_001375405.1(CEP120):c.2206dup (p.Glu736fs) rs2127034914
NM_001375405.1(CEP120):c.2377A>T (p.Lys793Ter)
NM_001375405.1(CEP120):c.2449C>T (p.Gln817Ter)
NM_001375405.1(CEP120):c.2743C>T (p.Gln915Ter)
NM_001375405.1(CEP120):c.2917C>T (p.Arg973Ter)
NM_001375405.1(CEP120):c.2924T>G (p.Ile975Ser) rs1554098663
NM_001375405.1(CEP120):c.581T>C (p.Val194Ala) rs1554104276
NM_001375405.1(CEP120):c.762del (p.Ser254fs) rs1772529903

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