ClinVar Miner

List of variants studied for primary ciliary dyskinesia 21 by Genome-Nilou Lab

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_145038.5(DRC1):c.1195T>C (p.Trp399Arg) rs939820 0.99790
NM_145038.5(DRC1):c.1397-15A>G rs4072407 0.66267
NM_145038.5(DRC1):c.1069A>G (p.Lys357Glu) rs3795958 0.14109
NM_145038.5(DRC1):c.495T>G (p.Ala165=) rs7423300

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