ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 101
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HGVS dbSNP gnomAD frequency
NM_001277115.2(DNAH11):c.11804C>T (p.Pro3935Leu) rs72658814 0.00025
NM_001277115.2(DNAH11):c.6506C>T (p.Ser2169Leu) rs373946181 0.00016
NM_001277115.2(DNAH11):c.6244C>T (p.Arg2082Ter) rs200693106 0.00006
NM_001277115.2(DNAH11):c.10166-1G>C rs1166330097 0.00003
NM_001277115.2(DNAH11):c.6130C>T (p.Arg2044Ter) rs767595964 0.00003
NM_001277115.2(DNAH11):c.983-1G>T rs777285019 0.00003
NM_001277115.2(DNAH11):c.1A>G (p.Met1Val) rs1162526607 0.00002
NM_001277115.2(DNAH11):c.2T>G (p.Met1Arg) rs1355068287 0.00002
NM_001277115.2(DNAH11):c.8525G>A (p.Arg2842Gln) rs778407227 0.00002
NM_001277115.2(DNAH11):c.10286G>A (p.Arg3429His) rs756115857 0.00001
NM_001277115.2(DNAH11):c.10332+2T>C rs972753865 0.00001
NM_001277115.2(DNAH11):c.10569-2A>G rs867382922 0.00001
NM_001277115.2(DNAH11):c.10691+5G>C rs1429978132 0.00001
NM_001277115.2(DNAH11):c.1930C>T (p.Arg644Ter) rs1228238442 0.00001
NM_001277115.2(DNAH11):c.3426-1G>A rs774855011 0.00001
NM_001277115.2(DNAH11):c.3648+2T>C rs1785094598 0.00001
NM_001277115.2(DNAH11):c.3853-2A>G rs750640740 0.00001
NM_001277115.2(DNAH11):c.4944+1G>A rs878854444 0.00001
NM_001277115.2(DNAH11):c.5145dup (p.His1716fs) rs2534838919 0.00001
NM_001277115.2(DNAH11):c.5500C>T (p.Arg1834Cys) rs180897552 0.00001
NM_001277115.2(DNAH11):c.6468+2T>G rs1435811495 0.00001
NM_001277115.2(DNAH11):c.6546+2T>C rs748950751 0.00001
NM_001277115.2(DNAH11):c.6763T>C (p.Trp2255Arg) rs2534986391 0.00001
NM_001277115.2(DNAH11):c.7811+1G>C rs1306120659 0.00001
NC_000007.13:g.(?_21605286)_(21609749_?)del
NC_000007.13:g.(?_21609667)_(21631215_?)dup
NC_000007.13:g.(?_21743309)_(21745099_?)del
NC_000007.13:g.(?_21749700)_(21750193_?)del
NC_000007.13:g.(?_21757118)_(21760444_?)del
NC_000007.13:g.(?_21757373)_(21760494_?)dup
NC_000007.13:g.(?_21765562)_(21767028_?)del
NC_000007.13:g.(?_21779281)_(21779934_?)del
NC_000007.13:g.(?_21779281)_(21779936_?)del
NC_000007.13:g.(?_21779282)_(21779935_?)del
NC_000007.13:g.(?_21906149)_(21912323_?)del
NM_001277115.2(DNAH11):c.10027-2A>G rs868294039
NM_001277115.2(DNAH11):c.10165+1G>A rs2535310959
NM_001277115.2(DNAH11):c.10332+1G>A rs1789350322
NM_001277115.2(DNAH11):c.10897-2A>T rs2535463696
NM_001277115.2(DNAH11):c.11165T>C (p.Leu3722Pro) rs1060503064
NM_001277115.2(DNAH11):c.11203-1G>C rs1783074775
NM_001277115.2(DNAH11):c.11690+1G>A rs2535506167
NM_001277115.2(DNAH11):c.11839+1G>A rs1783348812
NM_001277115.2(DNAH11):c.1194+2T>C rs2534496753
NM_001277115.2(DNAH11):c.11967+5G>A rs878854436
NM_001277115.2(DNAH11):c.12195+1G>A rs2534056842
NM_001277115.2(DNAH11):c.13162+1G>C
NM_001277115.2(DNAH11):c.13288G>C (p.Gly4430Arg) rs1275074212
NM_001277115.2(DNAH11):c.1426-2A>G rs1064794014
NM_001277115.2(DNAH11):c.1A>C (p.Met1Leu) rs1162526607
NM_001277115.2(DNAH11):c.2170-1G>C rs2534596060
NM_001277115.2(DNAH11):c.2274+1del rs2534596587
NM_001277115.2(DNAH11):c.2275-1del
NM_001277115.2(DNAH11):c.2275-2A>G rs2534597561
NM_001277115.2(DNAH11):c.2667+1G>C rs1784691873
NM_001277115.2(DNAH11):c.3766-8A>G rs1785297774
NM_001277115.2(DNAH11):c.4012-1G>A rs2534693553
NM_001277115.2(DNAH11):c.4095+2C>A rs532007878
NM_001277115.2(DNAH11):c.4096-2A>G rs1369201943
NM_001277115.2(DNAH11):c.4254+1G>A rs2128453160
NM_001277115.2(DNAH11):c.4377+1G>A rs2534707554
NM_001277115.2(DNAH11):c.4378-1G>A rs2534710940
NM_001277115.2(DNAH11):c.4817+1_4817+16del rs2534777695
NM_001277115.2(DNAH11):c.4818-2A>G rs886044152
NM_001277115.2(DNAH11):c.4944+2T>C rs2534781889
NM_001277115.2(DNAH11):c.495+1G>T rs377623604
NM_001277115.2(DNAH11):c.5094+1G>A rs746014324
NM_001277115.2(DNAH11):c.5094+2T>G rs1583567778
NM_001277115.2(DNAH11):c.5095-14A>G
NM_001277115.2(DNAH11):c.5095-1G>A rs2534838713
NM_001277115.2(DNAH11):c.5328+3A>G rs1583570354
NM_001277115.2(DNAH11):c.5329-2A>G rs932177093
NM_001277115.2(DNAH11):c.5622-1G>A rs2128473916
NM_001277115.2(DNAH11):c.5639C>A (p.Thr1880Asn) rs1245853002
NM_001277115.2(DNAH11):c.5779-1G>C rs2534917103
NM_001277115.2(DNAH11):c.6042-1G>T rs1364430470
NM_001277115.2(DNAH11):c.6181-1G>A rs1360420006
NM_001277115.2(DNAH11):c.6274-1G>A rs1489010290
NM_001277115.2(DNAH11):c.6541A>G (p.Ser2181Gly) rs1415270608
NM_001277115.2(DNAH11):c.6706G>C (p.Gly2236Arg) rs1583616682
NM_001277115.2(DNAH11):c.6835-1G>A rs2534990487
NM_001277115.2(DNAH11):c.692+2T>C rs2534461499
NM_001277115.2(DNAH11):c.693-2A>G rs1562660214
NM_001277115.2(DNAH11):c.7440+2T>C rs2535043152
NM_001277115.2(DNAH11):c.7812-2A>G rs1166463469
NM_001277115.2(DNAH11):c.7904_7914+645del rs1785786687
NM_001277115.2(DNAH11):c.7907_7914+646del rs1583647043
NM_001277115.2(DNAH11):c.7914+2T>C rs2535099666
NM_001277115.2(DNAH11):c.8563G>A (p.Gly2855Arg) rs1060503056
NM_001277115.2(DNAH11):c.860dup (p.Asn287fs) rs781372148
NM_001277115.2(DNAH11):c.8673+1G>A rs1060503041
NM_001277115.2(DNAH11):c.8674-1G>A rs2535134459
NM_001277115.2(DNAH11):c.8798-1G>A rs1282229623
NM_001277115.2(DNAH11):c.8798-2A>G rs2535136966
NM_001277115.2(DNAH11):c.8940+1G>A rs2535137725
NM_001277115.2(DNAH11):c.9484-18_9486del rs1788083949
NM_001277115.2(DNAH11):c.9597+1G>A
NM_001277115.2(DNAH11):c.9598-1G>C rs2535259357
NM_001277115.2(DNAH11):c.9742-1G>C
NM_001277115.2(DNAH11):c.982+1G>C rs2534483587
NM_001277115.2(DNAH11):c.9924+1G>A rs1554281038

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