ClinVar Miner

List of variants reported for Primary ciliary dyskinesia 7 by Undiagnosed Diseases Network, NIH

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001277115.2(DNAH11):c.6727C>T (p.Arg2243Ter)	rs201943194	0.00008
NM_001277115.2(DNAH11):c.2966G>A (p.Arg989Gln)	rs1178187217	0.00001
NM_001277115.2(DNAH11):c.3000+3A>G	rs781625159	0.00001
NM_001277115.2(DNAH11):c.6547-963G>A

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