ClinVar Miner

List of variants studied for primary ciliary dyskinesia 5 by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001270974.2(HYDIN):c.3786-1G>T rs373501414 0.00003
NM_001270974.2(HYDIN):c.3985G>T (p.Val1329Leu) rs397515413
NM_001270974.2(HYDIN):c.922A>T (p.Lys308Ter) rs397515414

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