ClinVar Miner

List of variants in gene DNAH11 reported as likely pathogenic for Primary ciliary dyskinesia

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Total variants: 28
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HGVS dbSNP
NC_000007.13:g.(?_21749700_21750193del
NC_000007.13:g.(?_21779281_21779936del
NC_000007.13:g.(?_21779282_21779935del
NC_000007.14:g.(?_21735620)_(21739693_?)del
NM_001277115.2(DNAH11):c.10264G>A (p.Gly3422Arg)
NM_001277115.2(DNAH11):c.10286G>A (p.Arg3429His) rs756115857
NM_001277115.2(DNAH11):c.10332+2T>C rs972753865
NM_001277115.2(DNAH11):c.10691+5G>C
NM_001277115.2(DNAH11):c.11165T>C (p.Leu3722Pro) rs1060503064
NM_001277115.2(DNAH11):c.11203-1G>C
NM_001277115.2(DNAH11):c.11967+5G>A rs878854436
NM_001277115.2(DNAH11):c.12934-1G>T rs1554293484
NM_001277115.2(DNAH11):c.13288G>C (p.Gly4430Arg)
NM_001277115.2(DNAH11):c.1A>G (p.Met1Val) rs1162526607
NM_001277115.2(DNAH11):c.2671A>G (p.Asn891Asp)
NM_001277115.2(DNAH11):c.3766-8A>G
NM_001277115.2(DNAH11):c.4095+2C>A rs532007878
NM_001277115.2(DNAH11):c.4254+1G>A
NM_001277115.2(DNAH11):c.4254+5G>C
NM_001277115.2(DNAH11):c.4944+1G>A rs878854444
NM_001277115.2(DNAH11):c.5328+3A>G rs1583570354
NM_001277115.2(DNAH11):c.6181-1G>A
NM_001277115.2(DNAH11):c.7904_7914+645del
NM_001277115.2(DNAH11):c.7907_7914+646del rs1583647043
NM_001277115.2(DNAH11):c.8673+1G>A rs1060503041
NM_001277115.2(DNAH11):c.9484-18_9486del
NM_001277115.2(DNAH11):c.9924+1G>A rs1554281038
Single allele

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