ClinVar Miner

List of variants studied for Primary ciliary dyskinesia 7 by Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001277115.2(DNAH11):c.3470T>G (p.Leu1157Arg) rs117830543 0.00006
NM_001277115.2(DNAH11):c.13373C>T (p.Pro4458Leu) rs72658835 0.00005
NM_001277115.2(DNAH11):c.7441-1G>C rs2128489042
NM_001277115.2(DNAH11):c.8769_8785del (p.Val2924fs) rs2128492930
NM_001277115.2(DNAH11):c.9454A>T (p.Lys3152Ter) rs2127982555

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