ClinVar Miner

List of variants in gene DNAH11 reported as likely pathogenic for Ciliary dyskinesia, primary, 7

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Total variants: 8
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NM_001277115.2(DNAH11):c.2966G>A (p.Arg989Gln) rs1178187217
NM_001277115.2(DNAH11):c.3470T>G (p.Leu1157Arg) rs117830543
NM_001277115.2(DNAH11):c.5695A>G (p.Lys1899Glu) rs1190944498
NM_001277115.2(DNAH11):c.5699_5700del (p.Thr1900fs)
NM_001277115.2(DNAH11):c.6565C>T (p.Arg2189Ter)
NM_001277115.2(DNAH11):c.7267-1G>T rs759302236
NM_001277115.2(DNAH11):c.9587_9595dup (p.Thr3196_Asn3198dup)

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