ClinVar Miner

List of variants studied for Primary ciliary dyskinesia 7 by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_001277115.2(DNAH11):c.13547C>T (p.Ala4516Val) rs72658840 0.02832
NM_001277115.2(DNAH11):c.4377+20G>A rs113270736 0.02672
NM_001277115.2(DNAH11):c.421G>T (p.Asp141Tyr) rs72655969 0.02050
NM_001277115.2(DNAH11):c.6835-19A>G rs77931784 0.01493
NM_001277115.2(DNAH11):c.8969G>A (p.Arg2990His) rs72657371 0.01466
NM_001277115.2(DNAH11):c.9018G>A (p.Thr3006=) rs72657372 0.01452
NM_001277115.2(DNAH11):c.6683+13C>G rs17145077 0.01337
NM_001277115.2(DNAH11):c.9337-9T>C rs72657378 0.01332
NM_001277115.2(DNAH11):c.6547-5C>G rs115200161 0.01266
NM_001277115.2(DNAH11):c.9102+8G>A rs72657374 0.01255
NM_001277115.2(DNAH11):c.8317-16C>G rs76300792 0.01191
NM_001277115.2(DNAH11):c.11059A>G (p.Lys3687Glu) rs72657402 0.01150
NM_001277115.2(DNAH11):c.10739G>A (p.Arg3580His) rs34879202 0.00942
NM_001277115.2(DNAH11):c.13176G>C (p.Thr4392=) rs79449551 0.00817
NM_001277115.2(DNAH11):c.7441-19A>G rs10247099 0.00707
NM_001277115.2(DNAH11):c.8188G>T (p.Gly2730Cys) rs28549882 0.00700
NM_001277115.2(DNAH11):c.7332G>A (p.Pro2444=) rs28370951 0.00650
NM_001277115.2(DNAH11):c.1426-9T>C rs72655983 0.00607
NM_001277115.2(DNAH11):c.4598T>G (p.Ile1533Ser) rs73682656 0.00571
NM_001277115.2(DNAH11):c.693-9T>C rs72655973 0.00515
NM_001277115.2(DNAH11):c.939C>T (p.Ser313=) rs72655977 0.00497
NM_001277115.2(DNAH11):c.9435G>A (p.Thr3145=) rs72657379 0.00449
NM_001277115.2(DNAH11):c.9097A>G (p.Ile3033Val) rs72657373 0.00428
NM_001277115.2(DNAH11):c.4501-7A>T rs62447794 0.00414
NM_001277115.2(DNAH11):c.6041+18T>C rs72657336 0.00407
NM_001277115.2(DNAH11):c.2380G>A (p.Glu794Lys) rs78653098 0.00401
NM_001277115.2(DNAH11):c.5185C>T (p.Pro1729Ser) rs144106494 0.00357
NM_001277115.2(DNAH11):c.12521T>G (p.Leu4174Arg) rs144474011 0.00307
NM_001277115.2(DNAH11):c.9935A>T (p.Asp3312Val) rs72657389 0.00307
NM_001277115.2(DNAH11):c.10391C>T (p.Thr3464Ile) rs141112088 0.00293
NM_001277115.2(DNAH11):c.8798-5G>A rs189821372 0.00292
NM_001277115.2(DNAH11):c.4430T>C (p.Val1477Ala) rs72657320 0.00260
NM_001277115.2(DNAH11):c.11233G>A (p.Glu3745Lys) rs182389910 0.00242
NM_001277115.2(DNAH11):c.10782G>A (p.Pro3594=) rs72657400 0.00200
NM_001277115.2(DNAH11):c.3466G>A (p.Gly1156Arg) rs183521702 0.00149
NM_001277115.2(DNAH11):c.6970C>G (p.Leu2324Val) rs201323940 0.00145
NM_001277115.2(DNAH11):c.2486G>A (p.Arg829His) rs201261243 0.00129
NM_001277115.2(DNAH11):c.6181-12T>C rs201203384 0.00122
NM_001277115.2(DNAH11):c.12370T>G (p.Leu4124Val) rs151156028 0.00109
NM_001277115.2(DNAH11):c.13257A>G (p.Gly4419=) rs200445638 0.00100
NM_001277115.2(DNAH11):c.3765C>T (p.Asp1255=) rs190062687 0.00092
NM_001277115.2(DNAH11):c.7811+4A>T rs374167556 0.00089
NM_001277115.2(DNAH11):c.470G>A (p.Gly157Glu) rs185011953 0.00081
NM_001277115.2(DNAH11):c.13049+15C>T rs200860431 0.00080
NM_001277115.2(DNAH11):c.12632C>T (p.Pro4211Leu) rs142585703 0.00079
NM_001277115.2(DNAH11):c.10740C>G (p.Arg3580=) rs114916492 0.00057
NM_001277115.2(DNAH11):c.6352G>A (p.Gly2118Ser) rs72657342 0.00048
NM_001277115.2(DNAH11):c.8521A>G (p.Ser2841Gly) rs199789835 0.00042
NM_001277115.2(DNAH11):c.727A>G (p.Ile243Val) rs189000268 0.00038
NM_018719.5(CDCA7L):c.*1333C>T rs114694338 0.00036
NM_001277115.2(DNAH11):c.6017C>T (p.Pro2006Leu) rs117803903 0.00017
NM_001277115.2(DNAH11):c.3412T>C (p.Phe1138Leu) rs200099996 0.00015
NM_001277115.2(DNAH11):c.11506G>A (p.Val3836Ile) rs767109418 0.00008
NM_001277115.2(DNAH11):c.6664C>G (p.Arg2222Gly) rs773498002 0.00006
NM_001277115.2(DNAH11):c.2750A>T (p.Glu917Val) rs543944909 0.00005
NM_001277115.2(DNAH11):c.698C>T (p.Pro233Leu) rs776376992 0.00004
NM_001277115.2(DNAH11):c.1220A>C (p.Asp407Ala) rs780042783 0.00002
NM_001277115.2(DNAH11):c.2256A>G (p.Lys752=) rs775806737 0.00001
NM_001277115.2(DNAH11):c.3084A>G (p.Leu1028=) rs770918827 0.00001
NM_001277115.2(DNAH11):c.495+18A>G rs779666043 0.00001
NM_001277115.2(DNAH11):c.6817G>A (p.Val2273Ile) rs772793348 0.00001
NM_001277115.2(DNAH11):c.9436G>C (p.Glu3146Gln) rs762421117 0.00001
NM_001277115.2(DNAH11):c.100_101delinsTT (p.Glu34Leu) rs398123604
NM_001277115.2(DNAH11):c.11840-5C>T
NM_001277115.2(DNAH11):c.12195+10C>A rs578249356
NM_001277115.2(DNAH11):c.13069C>T (p.Arg4357Ter) rs775720394
NM_001277115.2(DNAH11):c.13263G>C (p.Pro4421=) rs72658834
NM_001277115.2(DNAH11):c.1997C>A (p.Ala666Asp) rs368059592
NM_001277115.2(DNAH11):c.5095-14A>G
NM_001277115.2(DNAH11):c.6273+9A>G rs192777767
NM_001277115.2(DNAH11):c.6684-12A>G
NM_001277115.2(DNAH11):c.7626G>T (p.Thr2542=) rs2072221
NM_001277115.2(DNAH11):c.8023A>G (p.Ile2675Val) rs72657364

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