ClinVar Miner

List of variants reported as likely benign for Primary ciliary dyskinesia 11 by Illumina Laboratory Services, Illumina

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001010892.3(RSPH4A):c.731G>A (p.Arg244His) rs41289942 0.01592
NM_001010892.3(RSPH4A):c.1489G>A (p.Val497Ile) rs117169123 0.01149
NM_001010892.3(RSPH4A):c.1798+11G>A rs41290844 0.00873
NM_001010892.3(RSPH4A):c.*250G>T rs58311062 0.00681
NM_001010892.3(RSPH4A):c.1731A>G (p.Lys577=) rs73765819 0.00679
NM_001010892.3(RSPH4A):c.*491T>C rs116191088 0.00466
NM_001010892.3(RSPH4A):c.144G>A (p.Gly48=) rs112350099 0.00359
NM_001010892.3(RSPH4A):c.*8A>G rs575857124 0.00001

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