ClinVar Miner

List of variants in gene DRC1 reported as pathogenic for primary ciliary dyskinesia 21

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_145038.5(DRC1):c.352C>T (p.Gln118Ter) rs142371860 0.00031
NM_145038.5(DRC1):c.109dup (p.Gln37fs) rs750136163
NM_145038.5(DRC1):c.1976del (p.Ser659fs) rs772974990
NM_145038.5(DRC1):c.2056A>T (p.Lys686Ter) rs587776997

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