ClinVar Miner

List of variants in gene combination DNAAF2, LOC130055542 reported as pathogenic for Primary ciliary dyskinesia 10

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_018139.3(DNAAF2):c.1054_1087del (p.Ala352fs)	rs2502768785
NM_018139.3(DNAAF2):c.1199_1214dup (p.Gly406fs)	rs397515341

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