ClinVar Miner

List of variants studied for ciliopathy by Tolun Lab, Human Genetics Laboratory, Bogazici University

Included ClinVar conditions (273):
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_153704.6(TMEM67):c.2397T>C (p.Asp799=) rs117195541 0.01237
NM_024296.5(CCDC28B):c.330C>T (p.Phe110=) rs41263993 0.01032
NM_000867.5(HTR2B):c.736A>T (p.Lys246Ter) rs564438017 0.00001
NM_177965.4(CFAP418):c.533C>T (p.Ala178Val) rs375314973 0.00001
NM_005269.3(GLI1):c.820G>C (p.Gly274Arg) rs563340967
NM_032898.5(CEP19):c.182dup (p.Tyr61Ter) rs1553794304

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