ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 90
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HGVS dbSNP
NC_000007.14:g.(?_21655812)_(21656001_?)del
NC_000007.14:g.(?_21681526)_(21745083_?)dup
NC_000007.14:g.(?_21683764)_(21683964_?)del
NC_000007.14:g.(?_21698055)_(21765609_?)del
NC_000007.14:g.(?_21735620)_(21750384_?)del
NC_000007.14:g.(?_21892405)_(21895019_?)del
NM_001277115.2(DNAH11):c.10036C>T (p.Arg3346Ter)
NM_001277115.2(DNAH11):c.10048A>T (p.Arg3350Ter) rs1554282583
NM_001277115.2(DNAH11):c.10221_10222del (p.Cys3408fs) rs886042735
NM_001277115.2(DNAH11):c.10324C>T (p.Gln3442Ter) rs72657393
NM_001277115.2(DNAH11):c.10789C>T (p.Gln3597Ter) rs1060503063
NM_001277115.2(DNAH11):c.11188C>T (p.Gln3730Ter)
NM_001277115.2(DNAH11):c.11288_11289dup (p.Ile3764fs) rs1562590250
NM_001277115.2(DNAH11):c.11373+1G>A rs1175443221
NM_001277115.2(DNAH11):c.11381T>A (p.Leu3794Ter) rs878854435
NM_001277115.2(DNAH11):c.11396_11399del (p.Ile3799fs)
NM_001277115.2(DNAH11):c.11521C>T (p.Arg3841Ter)
NM_001277115.2(DNAH11):c.11533C>T (p.Arg3845Ter) rs1309805676
NM_001277115.2(DNAH11):c.12196-2A>G rs1554291973
NM_001277115.2(DNAH11):c.12232A>T (p.Lys4078Ter) rs1583806864
NM_001277115.2(DNAH11):c.12310C>T (p.Arg4104Ter)
NM_001277115.2(DNAH11):c.12466del (p.Leu4156fs) rs1554292398
NM_001277115.2(DNAH11):c.12697C>T (p.Gln4233Ter)
NM_001277115.2(DNAH11):c.13008G>A (p.Trp4336Ter)
NM_001277115.2(DNAH11):c.13069C>T (p.Arg4357Ter) rs775720394
NM_001277115.2(DNAH11):c.13075C>T (p.Arg4359Ter) rs774903187
NM_001277115.2(DNAH11):c.1311T>A (p.Tyr437Ter) rs559143773
NM_001277115.2(DNAH11):c.13165_13168dup (p.Met4390fs)
NM_001277115.2(DNAH11):c.13171C>T (p.Gln4391Ter) rs761855200
NM_001277115.2(DNAH11):c.13183C>T (p.Arg4395Ter) rs757784023
NM_001277115.2(DNAH11):c.1320del (p.Lys440fs)
NM_001277115.2(DNAH11):c.13240dup (p.Thr4414fs) rs759332741
NM_001277115.2(DNAH11):c.13266_13272dup (p.Gly4425fs)
NM_001277115.2(DNAH11):c.13288G>A (p.Gly4430Arg)
NM_001277115.2(DNAH11):c.1358G>A (p.Trp453Ter)
NM_001277115.2(DNAH11):c.1475_1593+946del
NM_001277115.2(DNAH11):c.1486A>T (p.Lys496Ter) rs769637393
NM_001277115.2(DNAH11):c.1593+1G>A rs1554312483
NM_001277115.2(DNAH11):c.1710+1G>C
NM_001277115.2(DNAH11):c.2200_2240dup (p.Leu747delinsPhePheTer) rs1583508118
NM_001277115.2(DNAH11):c.2559del (p.Glu854fs) rs1562684798
NM_001277115.2(DNAH11):c.2569C>T (p.Arg857Ter)
NM_001277115.2(DNAH11):c.2974del (p.Thr992fs)
NM_001277115.2(DNAH11):c.3117C>G (p.Tyr1039Ter)
NM_001277115.2(DNAH11):c.3122G>A (p.Trp1041Ter) rs878854441
NM_001277115.2(DNAH11):c.3133C>T (p.Arg1045Ter) rs377691013
NM_001277115.2(DNAH11):c.3208G>T (p.Glu1070Ter) rs949492765
NM_001277115.2(DNAH11):c.3220G>T (p.Glu1074Ter)
NM_001277115.2(DNAH11):c.3426-1G>A
NM_001277115.2(DNAH11):c.3544C>T (p.Arg1182Ter) rs374107286
NM_001277115.2(DNAH11):c.3595del (p.Leu1199fs)
NM_001277115.2(DNAH11):c.3765+1G>A
NM_001277115.2(DNAH11):c.4095+2C>A rs532007878
NM_001277115.2(DNAH11):c.4333C>T (p.Arg1445Ter) rs72657316
NM_001277115.2(DNAH11):c.4395_4398del (p.Ser1465fs)
NM_001277115.2(DNAH11):c.4438C>T (p.Arg1480Ter) rs72657321
NM_001277115.2(DNAH11):c.4567C>T (p.Gln1523Ter) rs1286036654
NM_001277115.2(DNAH11):c.4621C>T (p.Arg1541Ter) rs757013900
NM_001277115.2(DNAH11):c.4950_4951del (p.Cys1651fs) rs1583567611
NM_001277115.2(DNAH11):c.5047G>T (p.Glu1683Ter) rs767308949
NM_001277115.2(DNAH11):c.5199G>A (p.Trp1733Ter)
NM_001277115.2(DNAH11):c.5218C>T (p.Gln1740Ter)
NM_001277115.2(DNAH11):c.5368G>T (p.Glu1790Ter) rs1164659091
NM_001277115.2(DNAH11):c.546T>A (p.Cys182Ter) rs1554309352
NM_001277115.2(DNAH11):c.5593C>T (p.Arg1865Ter)
NM_001277115.2(DNAH11):c.5778+1G>A rs72657333
NM_001277115.2(DNAH11):c.5885_5922del (p.Val1962fs) rs1554269295
NM_001277115.2(DNAH11):c.5924+1G>C rs886039340
NM_001277115.2(DNAH11):c.5924+2T>A
NM_001277115.2(DNAH11):c.6004C>T (p.Arg2002Ter) rs373844629
NM_001277115.2(DNAH11):c.6130C>T (p.Arg2044Ter) rs767595964
NM_001277115.2(DNAH11):c.6244C>T (p.Arg2082Ter) rs200693106
NM_001277115.2(DNAH11):c.6265G>T (p.Glu2089Ter) rs1275718084
NM_001277115.2(DNAH11):c.6527C>T (p.Ala2176Val) rs770279400
NM_001277115.2(DNAH11):c.6664C>T (p.Arg2222Ter) rs773498002
NM_001277115.2(DNAH11):c.6727C>T (p.Arg2243Ter) rs201943194
NM_001277115.2(DNAH11):c.7140_7141del (p.Val2382fs) rs878854445
NM_001277115.2(DNAH11):c.7266+1G>A rs72657354
NM_001277115.2(DNAH11):c.7279C>T (p.Gln2427Ter) rs202236144
NM_001277115.2(DNAH11):c.8076_8077del (p.Met2693fs)
NM_001277115.2(DNAH11):c.8132_8135del (p.Arg2711fs) rs1562521048
NM_001277115.2(DNAH11):c.8141C>G (p.Ser2714Ter) rs1237605731
NM_001277115.2(DNAH11):c.8144del (p.Asn2715fs)
NM_001277115.2(DNAH11):c.8610C>G (p.Tyr2870Ter) rs878854446
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.9288dup (p.Glu3097fs) rs771781357
NM_001277115.2(DNAH11):c.9478C>T (p.Arg3160Ter)
NM_001277115.2(DNAH11):c.9560_9563dup (p.Ala3189fs)
NM_001277115.2(DNAH11):c.983-1G>T

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