ClinVar Miner

List of variants studied for Primary ciliary dyskinesia 7 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001277115.2(DNAH11):c.2956C>T (p.Gln986Ter) rs767496764 0.00001
NM_001277115.2(DNAH11):c.11259G>T (p.Met3753Ile)
NM_001277115.2(DNAH11):c.12748A>T (p.Lys4250Ter) rs770946058
NM_001277115.2(DNAH11):c.58C>T (p.Arg20Cys) rs72655967
NM_001277115.2(DNAH11):c.6916G>T (p.Ala2306Ser)
NM_001277115.2(DNAH11):c.8654A>G (p.Tyr2885Cys) rs758234780
NM_001277115.2(DNAH11):c.9483+2T>A rs2535235100

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