ClinVar Miner

List of variants studied for Primary ciliary dyskinesia 3 by New York Genome Center

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001369.3(DNAH5):c.10731C>G (p.Asn3577Lys) rs376292253 0.00011
NM_001369.3(DNAH5):c.2260-2552G>T rs1047408706 0.00005
NM_001369.3(DNAH5):c.8236G>T (p.Val2746Leu) rs773643407 0.00002
NM_001369.3(DNAH5):c.8311C>T (p.Arg2771Cys) rs769557047 0.00002
NM_001369.3(DNAH5):c.2869G>A (p.Glu957Lys) rs762848961 0.00001
NM_001369.3(DNAH5):c.8314C>T (p.Arg2772Ter) rs781469274 0.00001
NM_001369.3(DNAH5):c.1852C>T (p.Arg618Ter) rs778780449
NM_001369.3(DNAH5):c.[2577+5T>G;5413C>T]

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