ClinVar Miner

List of variants studied for Primary ciliary dyskinesia 7 by Genetics and Molecular Pathology, SA Pathology

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_001277115.2(DNAH11):c.640A>G (p.Ile214Val) rs117064287 0.00559
NM_001277115.2(DNAH11):c.8533C>G (p.Arg2845Gly) rs121908854 0.00163
NM_001277115.2(DNAH11):c.9110A>G (p.His3037Arg) rs192327380 0.00070
NM_001277115.2(DNAH11):c.8888C>A (p.Ser2963Tyr) rs374033085 0.00044
NM_001277115.2(DNAH11):c.3853-5C>G rs367628980 0.00024
NM_001277115.2(DNAH11):c.982+8T>A rs72655978 0.00020
NM_001277115.2(DNAH11):c.6017C>T (p.Pro2006Leu) rs117803903 0.00017
NM_001277115.2(DNAH11):c.698C>T (p.Pro233Leu) rs776376992 0.00004
NM_001277115.2(DNAH11):c.12460C>T (p.Arg4154Cys) rs755743542 0.00003
NM_001277115.2(DNAH11):c.10264G>A (p.Gly3422Arg) rs764509824 0.00002
NM_001277115.2(DNAH11):c.12403C>A (p.Leu4135Ile) rs968812504
NM_001277115.2(DNAH11):c.13130C>T (p.Ser4377Phe) rs759005216
NM_001277115.2(DNAH11):c.13472_13490dup (p.Lys4497fs) rs2534165795
NM_001277115.2(DNAH11):c.7572G>T (p.Leu2524Phe) rs1785582514

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