ClinVar Miner

List of variants reported for Primary ciliary dyskinesia by Fulgent Genetics, Fulgent Genetics

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001206927.2(DNAH8):c.5545A>T (p.Ile1849Leu) rs145036630 0.00025
NM_001206927.2(DNAH8):c.12100C>T (p.Leu4034Phe) rs146505940
NM_001206927.2(DNAH8):c.4847A>T (p.Asp1616Val) rs943252271

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