ClinVar Miner

List of variants reported as likely benign for ciliary dyskinesia, primary, 42

Included ClinVar conditions (1):

Ciliary dyskinesia, primary, 42

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001190787.3(MCIDAS):c.739C>T (p.Arg247Trp)	rs199825346	0.00332
NM_001190787.3(MCIDAS):c.162G>T (p.Gly54=)	rs190259474	0.00085
NM_001190787.3(MCIDAS):c.218-13_218-6dup	rs771063151

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