ClinVar Miner

List of variants in gene combination CDCA7L, DNAH11 reported as likely benign for Primary ciliary dyskinesia

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Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_018719.5(CDCA7L):c.*980T>C rs7971 0.27747
NM_018719.5(CDCA7L):c.*501T>C rs12700325 0.20592
NM_001277115.2(DNAH11):c.13502A>G (p.Lys4501Arg) rs77448980 0.06056
NM_001277115.2(DNAH11):c.13547C>T (p.Ala4516Val) rs72658840 0.02832
NM_018719.5(CDCA7L):c.*1052G>A rs72658841 0.01754
NM_001277115.2(DNAH11):c.13406G>A (p.Arg4469Lys) rs183031009 0.00120
NM_001277115.2(DNAH11):c.13548G>A (p.Ala4516=) rs147454485 0.00080
NM_018719.5(CDCA7L):c.*1333C>T rs114694338 0.00036
NM_001277115.2(DNAH11):c.13305C>T (p.Gly4435=) rs150682314 0.00029
NM_001277115.2(DNAH11):c.13377C>T (p.Val4459=) rs199706799 0.00028
NM_001277115.2(DNAH11):c.13399G>A (p.Val4467Met) rs200609513 0.00020
NM_001277115.2(DNAH11):c.13346G>A (p.Arg4449His) rs138945257 0.00016
NM_001277115.2(DNAH11):c.13398C>T (p.Pro4466=) rs72658836 0.00016
NM_001277115.2(DNAH11):c.13482C>T (p.Phe4494=) rs370038827 0.00010
NM_001277115.2(DNAH11):c.13494C>T (p.Ser4498=) rs368269718 0.00006
NM_001277115.2(DNAH11):c.13308C>A (p.Ala4436=)
NM_001277115.2(DNAH11):c.13320C>T (p.Thr4440=)
NM_001277115.2(DNAH11):c.13323A>G (p.Gln4441=)
NM_001277115.2(DNAH11):c.13329A>T (p.Gly4443=)
NM_001277115.2(DNAH11):c.13362A>T (p.Ala4454=)
NM_001277115.2(DNAH11):c.13374G>A (p.Pro4458=) rs201444942
NM_001277115.2(DNAH11):c.13374G>C (p.Pro4458=) rs201444942
NM_001277115.2(DNAH11):c.13383T>C (p.Phe4461=)
NM_001277115.2(DNAH11):c.13389A>G (p.Lys4463=) rs759644499
NM_001277115.2(DNAH11):c.13395C>G (p.Thr4465=)
NM_001277115.2(DNAH11):c.13398C>A (p.Pro4466=)
NM_001277115.2(DNAH11):c.13410A>G (p.Gln4470=)
NM_001277115.2(DNAH11):c.13416C>T (p.Thr4472=)
NM_001277115.2(DNAH11):c.13425C>T (p.Thr4475=)
NM_001277115.2(DNAH11):c.13428C>T (p.Tyr4476=)
NM_001277115.2(DNAH11):c.13431G>A (p.Glu4477=)
NM_001277115.2(DNAH11):c.13446A>G (p.Arg4482=)
NM_001277115.2(DNAH11):c.13449C>A (p.Thr4483=)
NM_001277115.2(DNAH11):c.13455G>A (p.Leu4485=)
NM_001277115.2(DNAH11):c.13461C>A (p.Gly4487=)
NM_001277115.2(DNAH11):c.13464C>A (p.Pro4488=) rs1489261617
NM_001277115.2(DNAH11):c.13467C>T (p.Ser4489=)
NM_001277115.2(DNAH11):c.13485G>A (p.Arg4495=)
NM_001277115.2(DNAH11):c.13506T>G (p.Thr4502=)
NM_001277115.2(DNAH11):c.13521G>A (p.Leu4507=)
NM_001277115.2(DNAH11):c.13524T>C (p.Ala4508=)
NM_001277115.2(DNAH11):c.13530G>A (p.Val4510=)
NM_001277115.2(DNAH11):c.13539T>G (p.Leu4513=)
NM_001277115.2(DNAH11):c.13542A>G (p.Leu4514=)
NM_001277115.2(DNAH11):c.13545A>G (p.Glu4515=)
NM_018719.5(CDCA7L):c.*1320G>A
NM_018719.5(CDCA7L):c.*1321G>A
NM_018719.5(CDCA7L):c.*1322C>A
NM_018719.5(CDCA7L):c.*1328C>G
NM_018719.5(CDCA7L):c.*1328CA[1]
NM_018719.5(CDCA7L):c.*1330C>T
NM_018719.5(CDCA7L):c.*1333_*1334del
NM_018719.5(CDCA7L):c.*1334G>A rs141951506
NM_018719.5(CDCA7L):c.*1334G>C
NM_018719.5(CDCA7L):c.*1334G>T
NM_018719.5(CDCA7L):c.*1335G>A
NM_018719.5(CDCA7L):c.*1335G>T
NM_018719.5(CDCA7L):c.*879G>C rs62445901

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