ClinVar Miner

List of variants reported as likely pathogenic for Ciliary dyskinesia, primary, 3

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Total variants: 15
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HGVS dbSNP
NM_001369.2(DNAH5):c.12617G>A (p.Trp4206Ter) rs372118787
NM_001369.2(DNAH5):c.1427_1428del (p.Phe476fs) rs774493427
NM_001369.2(DNAH5):c.2224C>T (p.Arg742Ter) rs776686983
NM_001369.2(DNAH5):c.4361G>A (p.Arg1454Gln) rs542708170
NM_001369.2(DNAH5):c.4643T>C (p.Leu1548Pro)
NM_001369.2(DNAH5):c.5177T>C (p.Leu1726Pro) rs138890576
NM_001369.2(DNAH5):c.6037C>T (p.Arg2013Ter) rs1273352530
NM_001369.2(DNAH5):c.6249G>A (p.Met2083Ile) rs753614861
NM_001369.2(DNAH5):c.6763C>T (p.Arg2255Ter) rs745918507
NM_001369.2(DNAH5):c.8030G>A (p.Arg2677Gln) rs886043448
NM_001369.2(DNAH5):c.8396G>A (p.Arg2799Gln)
NM_001369.2(DNAH5):c.9365del (p.Ala3121_Leu3122insTer) rs1060501460
NM_001369.2(DNAH5):c.962C>T (p.Ser321Leu) rs201077964
NM_001369.3(DNAH5):c.11028+2T>C
Single allele

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