ClinVar Miner

List of variants reported as benign for Primary ciliary dyskinesia 32 by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_031924.8(RSPH3):c.35C>T (p.Ala12Val) rs61750777 0.02290
NM_031924.8(RSPH3):c.1024G>A (p.Glu342Lys) rs12204826 0.01824
NM_031924.8(RSPH3):c.767G>A (p.Arg256Gln) rs10455840 0.01819
NM_031924.8(RSPH3):c.303A>G (p.Thr101=) rs34756688 0.01596
NM_031924.8(RSPH3):c.-220C>A rs41267757 0.01586
NM_031924.8(RSPH3):c.242G>A (p.Arg81Gln) rs41267751 0.00764
NM_031924.8(RSPH3):c.992A>C (p.His331Pro) rs78116655

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