ClinVar Miner

List of variants studied for Primary ciliary dyskinesia by Clinical Genetics Laboratory, Skane University Hospital Lund

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001277115.2(DNAH11):c.6017C>T (p.Pro2006Leu) rs117803903 0.00017
NM_001277115.2(DNAH11):c.860dup (p.Asn287fs) rs781372148
NM_001394063.1(CFAP20DC):c.601C>T (p.Arg201Ter)

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