ClinVar Miner

List of variants studied for Primary ciliary dyskinesia 28 by Genome-Nilou Lab

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_003114.5(SPAG1):c.1688+42T>C rs2919471 0.67896
NM_003114.5(SPAG1):c.2330T>C (p.Met777Thr) rs6511 0.63802
NM_003114.5(SPAG1):c.2715G>A (p.Ser905=) rs1788190 0.28744
NM_003114.5(SPAG1):c.1338C>G (p.Ala446=) rs2514681

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