ClinVar Miner

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

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_001277115.2(DNAH11):c.13306G>A (p.Ala4436Thr) rs370565524 0.00002
NM_001277115.2(DNAH11):c.13313G>A (p.Trp4438Ter)
NM_001277115.2(DNAH11):c.13320_13350dup (p.Lys4451delinsProSerArgAsnHisCysTer)
NM_001277115.2(DNAH11):c.13320_13416dup (p.Lys4473delinsProSerArgAsnHisCysTer) rs1784790883
NM_001277115.2(DNAH11):c.13321C>T (p.Gln4441Ter) rs1261703349
NM_001277115.2(DNAH11):c.13322_13335dup (p.Val4446fs)
NM_001277115.2(DNAH11):c.13364_13415dup (p.Lys4473fs) rs2128053357
NM_001277115.2(DNAH11):c.13380_13383dup (p.Ala4462fs)
NM_001277115.2(DNAH11):c.13396_13426dup (p.Tyr4476fs)
NM_001277115.2(DNAH11):c.13406_13409del (p.Arg4469fs)
NM_001277115.2(DNAH11):c.13409_13424del (p.Gln4470fs)
NM_001277115.2(DNAH11):c.13411_13423del (p.Glu4471fs)
NM_001277115.2(DNAH11):c.13416_13428del (p.Lys4473fs)
NM_001277115.2(DNAH11):c.13416_13449dup (p.Lys4484delinsGlnThrAspLeuArgValProCysValTer)
NM_001277115.2(DNAH11):c.13416del (p.Lys4473fs)
NM_001277115.2(DNAH11):c.13418_13421dup (p.Tyr4476fs) rs1784799612
NM_001277115.2(DNAH11):c.13420C>T (p.Gln4474Ter)
NM_001277115.2(DNAH11):c.13429G>T (p.Glu4477Ter) rs551275210
NM_001277115.2(DNAH11):c.13439_13449dup (p.Lys4484fs)
NM_001277115.2(DNAH11):c.13451_13452dup (p.Leu4485fs) rs1450623027
NM_001277115.2(DNAH11):c.13476dup (p.Thr4493fs)
NM_001277115.2(DNAH11):c.13480_13489dup (p.Lys4497fs)
NM_001277115.2(DNAH11):c.13480_13492dup (p.Ser4498fs) rs2128053495
NM_001277115.2(DNAH11):c.13500_13504del (p.Glu4500fs) rs72658839
NM_001277115.2(DNAH11):c.13501_13502insGGACTGCAAAATGGGTTCTGGCTGGAGTGGCTCTGCTTCTAGAAGCGTAAGGTAACACTGGCATTCCTCTAGCCTCTGCTGGAGTGCAGTGAGGATTTTCTAGCATGTTGCTGCACTGTTCCCATTCTGGACCTTCAGGCTGAAGAGCGAAGAGA (p.Lys4501delinsArgThrAlaLysTrpValLeuAlaGlyValAlaLeuLeuLeuGluAlaTer) rs1554294459

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