ClinVar Miner

List of variants in gene DNAH11 reported as likely pathogenic for Primary ciliary dyskinesia 7

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Gene type:
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Total variants: 90
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HGVS dbSNP gnomAD frequency
NM_001277115.2(DNAH11):c.6506C>T (p.Ser2169Leu) rs373946181 0.00016
NM_001277115.2(DNAH11):c.1915C>T (p.Gln639Ter) rs200073714 0.00011
NM_001277115.2(DNAH11):c.4095+2C>T rs532007878 0.00007
NM_001277115.2(DNAH11):c.9560_9563dup (p.Ala3189fs) rs747442861 0.00007
NM_001277115.2(DNAH11):c.3470T>G (p.Leu1157Arg) rs117830543 0.00006
NM_001277115.2(DNAH11):c.12933+1G>A rs371022970 0.00004
NM_001277115.2(DNAH11):c.13288G>A (p.Gly4430Arg) rs1275074212 0.00004
NM_001277115.2(DNAH11):c.4333C>T (p.Arg1445Ter) rs72657316 0.00004
NM_001277115.2(DNAH11):c.10166-1G>C rs1166330097 0.00003
NM_001277115.2(DNAH11):c.10264G>A (p.Gly3422Arg) rs764509824 0.00002
NM_001277115.2(DNAH11):c.11929G>T (p.Glu3977Ter) rs72658817 0.00002
NM_001277115.2(DNAH11):c.1A>G (p.Met1Val) rs1162526607 0.00002
NM_001277115.2(DNAH11):c.6527C>T (p.Ala2176Val) rs770279400 0.00002
NM_001277115.2(DNAH11):c.7978C>T (p.Gln2660Ter) rs1562520885 0.00002
NM_001277115.2(DNAH11):c.10324C>T (p.Gln3442Ter) rs72657393 0.00001
NM_001277115.2(DNAH11):c.11521C>T (p.Arg3841Ter) rs988794959 0.00001
NM_001277115.2(DNAH11):c.1247C>A (p.Ser416Ter) rs1783826754 0.00001
NM_001277115.2(DNAH11):c.12970C>T (p.Gln4324Ter) rs769756688 0.00001
NM_001277115.2(DNAH11):c.3426-1G>A rs774855011 0.00001
NM_001277115.2(DNAH11):c.3853-2A>G rs750640740 0.00001
NM_001277115.2(DNAH11):c.4879C>T (p.Arg1627Cys) rs727502967 0.00001
NM_001277115.2(DNAH11):c.5047G>T (p.Glu1683Ter) rs767308949 0.00001
NM_001277115.2(DNAH11):c.5695A>G (p.Lys1899Glu) rs1190944498 0.00001
NM_001277115.2(DNAH11):c.6004C>T (p.Arg2002Ter) rs373844629 0.00001
NM_001277115.2(DNAH11):c.6565C>T (p.Arg2189Ter) rs778698443 0.00001
NM_001277115.2(DNAH11):c.6983+1G>A rs771953930 0.00001
NM_001277115.2(DNAH11):c.7646-1G>T rs1327282449 0.00001
NM_001277115.2(DNAH11):c.8932C>T (p.Gln2978Ter) rs772228900 0.00001
NM_001277115.2(DNAH11):c.9706C>T (p.Arg3236Ter) rs753101269 0.00001
NM_001277115.1:c.5554_6181-2105delinsGGTA
NM_001277115.2(DNAH11):c.10569-1G>A
NM_001277115.2(DNAH11):c.10691+1G>T rs1789901930
NM_001277115.2(DNAH11):c.11615G>A (p.Trp3872Ter) rs754491866
NM_001277115.2(DNAH11):c.11690+3_11690+10del
NM_001277115.2(DNAH11):c.11986A>T (p.Lys3996Ter) rs2534055729
NM_001277115.2(DNAH11):c.12064G>C (p.Ala4022Pro) rs72658819
NM_001277115.2(DNAH11):c.122_147del (p.Asn41fs)
NM_001277115.2(DNAH11):c.12748A>T (p.Lys4250Ter) rs770946058
NM_001277115.2(DNAH11):c.12934-1G>T rs1554293484
NM_001277115.2(DNAH11):c.13130C>T (p.Ser4377Phe) rs759005216
NM_001277115.2(DNAH11):c.13165_13168dup (p.Met4390fs) rs766922403
NM_001277115.2(DNAH11):c.136_157dup (p.Phe53fs) rs2534409783
NM_001277115.2(DNAH11):c.1426-2A>G rs1064794014
NM_001277115.2(DNAH11):c.1633_1634del (p.Leu545fs) rs756829484
NM_001277115.2(DNAH11):c.1710+1G>C rs1784326790
NM_001277115.2(DNAH11):c.175del (p.Val59fs) rs2534409982
NM_001277115.2(DNAH11):c.1974-1G>C
NM_001277115.2(DNAH11):c.2169+2T>C
NM_001277115.2(DNAH11):c.2709del (p.Trp904fs)
NM_001277115.2(DNAH11):c.346C>T (p.Gln116Ter) rs374802008
NM_001277115.2(DNAH11):c.3545_3551delinsAGATGATGAACTGTAGCTGTAAGA (p.Arg1182fs)
NM_001277115.2(DNAH11):c.3601G>T (p.Glu1201Ter) rs2534636903
NM_001277115.2(DNAH11):c.3727G>T (p.Glu1243Ter)
NM_001277115.2(DNAH11):c.3791_3792del (p.Arg1264fs) rs749926976
NM_001277115.2(DNAH11):c.379_383del (p.Val127fs) rs2128425459
NM_001277115.2(DNAH11):c.4012-1G>C
NM_001277115.2(DNAH11):c.4130G>A (p.Trp1377Ter)
NM_001277115.2(DNAH11):c.426_427del (p.Gln144fs)
NM_001277115.2(DNAH11):c.4273G>T (p.Glu1425Ter) rs1448862370
NM_001277115.2(DNAH11):c.4504C>T (p.Gln1502Ter) rs774689207
NM_001277115.2(DNAH11):c.4514del (p.Thr1505fs)
NM_001277115.2(DNAH11):c.4576_4580del (p.Leu1526fs)
NM_001277115.2(DNAH11):c.4658C>G (p.Ser1553Ter) rs1786848141
NM_001277115.2(DNAH11):c.4669C>T (p.Arg1557Ter)
NM_001277115.2(DNAH11):c.4817+1_4817+16del rs2534777695
NM_001277115.2(DNAH11):c.4922C>G (p.Ser1641Ter) rs2128460324
NM_001277115.2(DNAH11):c.5005C>T (p.Gln1669Ter) rs2534830355
NM_001277115.2(DNAH11):c.5247G>A (p.Trp1749Ter) rs2128465955
NM_001277115.2(DNAH11):c.5328+1G>T
NM_001277115.2(DNAH11):c.5506C>T (p.Arg1836Ter) rs370080269
NM_001277115.2(DNAH11):c.5699_5700del (p.Thr1900fs) rs1783410926
NM_001277115.2(DNAH11):c.5963del (p.Pro1987_Ser1988insTer) rs747957553
NM_001277115.2(DNAH11):c.6664C>T (p.Arg2222Ter) rs773498002
NM_001277115.2(DNAH11):c.6806del (p.Ser2269fs)
NM_001277115.2(DNAH11):c.7267-1G>T rs759302236
NM_001277115.2(DNAH11):c.7508_7509insTTG (p.Gly2503_Lys2504insTer) rs797045086
NM_001277115.2(DNAH11):c.7914G>C (p.Gln2638His) rs72657362
NM_001277115.2(DNAH11):c.793_794insCAGCT (p.Arg265fs) rs770628646
NM_001277115.2(DNAH11):c.8511-1G>C rs2128492584
NM_001277115.2(DNAH11):c.8632C>T (p.Gln2878Ter)
NM_001277115.2(DNAH11):c.8798-2A>G rs2535136966
NM_001277115.2(DNAH11):c.880C>T (p.Gln294Ter) rs2534464878
NM_001277115.2(DNAH11):c.9103-2A>C
NM_001277115.2(DNAH11):c.9113_9116del (p.Lys3038fs) rs1238389932
NM_001277115.2(DNAH11):c.927_931del (p.Ser312fs) rs1266458783
NM_001277115.2(DNAH11):c.9430C>T (p.Gln3144Ter) rs1428188386
NM_001277115.2(DNAH11):c.9483+2T>A rs2535235100
NM_001277115.2(DNAH11):c.9554del (p.Pro3185fs) rs2535252516
NM_001277115.2(DNAH11):c.9587_9595dup (p.Thr3196_Asn3198dup) rs2127985750
NM_001277115.2(DNAH11):c.9952C>T (p.Gln3318Ter)

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