ClinVar Miner

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

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Total variants: 18
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HGVS dbSNP
NM_001277115.2(DNAH11):c.10260C>G (p.Tyr3420Ter)
NM_001277115.2(DNAH11):c.10691+2T>C rs886039341
NM_001277115.2(DNAH11):c.11968-1G>C
NM_001277115.2(DNAH11):c.12363C>G (p.Tyr4121Ter) rs121908855
NM_001277115.2(DNAH11):c.13069C>T (p.Arg4357Ter) rs775720394
NM_001277115.2(DNAH11):c.3223C>T (p.Gln1075Ter)
NM_001277115.2(DNAH11):c.6004C>T (p.Arg2002Ter) rs373844629
NM_001277115.2(DNAH11):c.6452del (p.Glu2151fs)
NM_001277115.2(DNAH11):c.6506C>A (p.Ser2169Ter) rs373946181
NM_001277115.2(DNAH11):c.6727C>T (p.Arg2243Ter) rs201943194
NM_001277115.2(DNAH11):c.7508_7509insTTG (p.Lys2504_Pro2505insTer) rs797045086
NM_001277115.2(DNAH11):c.7772C>T (p.Pro2591Leu) rs387907258
NM_001277115.2(DNAH11):c.785C>G (p.Ser262Ter)
NM_001277115.2(DNAH11):c.8533C>T (p.Arg2845Ter) rs121908854
NM_001277115.2(DNAH11):c.8698C>T (p.Arg2900Ter) rs368260932
NM_001277115.2(DNAH11):c.8746C>T (p.Gln2916Ter) rs797045085
NM_001277115.2(DNAH11):c.9523G>T (p.Glu3175Ter)
NM_001277115.2(DNAH11):c.9685C>T (p.Arg3229Trp)

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