ClinVar Miner

List of variants reported as pathogenic for Primary ciliary dyskinesia 3

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Total variants: 79
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HGVS dbSNP gnomAD frequency
NM_001369.3(DNAH5):c.1121T>C (p.Ile374Thr) rs147499872 0.00060
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs) rs397515540 0.00019
NM_001369.3(DNAH5):c.4360C>T (p.Arg1454Ter) rs148139814 0.00019
NM_001369.3(DNAH5):c.10616G>A (p.Arg3539His) rs769458738 0.00006
NM_001369.3(DNAH5):c.13486C>T (p.Arg4496Ter) rs200901816 0.00006
NM_001369.3(DNAH5):c.6249G>A (p.Met2083Ile) rs753614861 0.00005
NM_001369.3(DNAH5):c.10384C>T (p.Gln3462Ter) rs571919972 0.00004
NM_001369.3(DNAH5):c.10615C>T (p.Arg3539Cys) rs1304504006 0.00003
NM_001369.3(DNAH5):c.1730G>C (p.Arg577Thr) rs397515541 0.00003
NM_001369.3(DNAH5):c.5503C>T (p.Gln1835Ter) rs761622153 0.00003
NM_001369.3(DNAH5):c.5710-2A>G rs548521732 0.00003
NM_001369.3(DNAH5):c.11653C>T (p.Arg3885Ter) rs756032160 0.00002
NM_001369.3(DNAH5):c.12617G>A (p.Trp4206Ter) rs372118787 0.00002
NM_001369.3(DNAH5):c.1432C>T (p.Arg478Ter) rs747900131 0.00002
NM_001369.3(DNAH5):c.6763C>T (p.Arg2255Ter) rs745918507 0.00002
NM_001369.3(DNAH5):c.10441C>T (p.Arg3481Ter) rs886039500 0.00001
NM_001369.3(DNAH5):c.12009G>A (p.Trp4003Ter) rs2126564103 0.00001
NM_001369.3(DNAH5):c.12107G>A (p.Trp4036Ter) rs760104757 0.00001
NM_001369.3(DNAH5):c.13285C>T (p.Arg4429Ter) rs1743041017 0.00001
NM_001369.3(DNAH5):c.1828C>T (p.Gln610Ter) rs121908853 0.00001
NM_001369.3(DNAH5):c.3139G>A (p.Gly1047Arg) rs751785066 0.00001
NM_001369.3(DNAH5):c.3484C>T (p.Gln1162Ter) rs760081822 0.00001
NM_001369.3(DNAH5):c.4237C>T (p.Gln1413Ter) rs752734772 0.00001
NM_001369.3(DNAH5):c.4314del (p.Asn1438fs) rs765355281 0.00001
NM_001369.3(DNAH5):c.4348C>T (p.Gln1450Ter) rs771663107 0.00001
NM_001369.3(DNAH5):c.5177T>C (p.Leu1726Pro) rs138890576 0.00001
NM_001369.3(DNAH5):c.5557A>T (p.Lys1853Ter) rs748618094 0.00001
NM_001369.3(DNAH5):c.8314C>T (p.Arg2772Ter) rs781469274 0.00001
NM_001369.3(DNAH5):c.832del (p.Ala278fs) rs727502977 0.00001
NM_001369.3(DNAH5):c.8440_8447del (p.Lys2813_Glu2814insTer) rs755136231 0.00001
NM_001369.3(DNAH5):c.8498G>A (p.Arg2833His) rs753130398 0.00001
NM_001369.3(DNAH5):c.9346C>T (p.Arg3116Ter) rs1264701182 0.00001
GRCh37/hg19 5p15.2(chr5:13844711-13845454)
NM_001039396.2(MPEG1):c.973C>T (p.Pro325Ser) rs2496452431
NM_001190787.3(MCIDAS):c.446T>C (p.Ile149Thr) rs2478513916
NM_001277115.2(DNAH11):c.11483G>T (p.Trp3828Leu) rs1783201954
NM_001369.3(DNAH5):c.10555G>C (p.Gly3519Arg) rs79967166
NM_001369.3(DNAH5):c.11571-1G>A rs1481337703
NM_001369.3(DNAH5):c.11725C>T (p.Arg3909Ter) rs1060501464
NM_001369.3(DNAH5):c.12397G>T (p.Glu4133Ter) rs376372961
NM_001369.3(DNAH5):c.12493T>C (p.Tyr4165His) rs1744666930
NM_001369.3(DNAH5):c.12907C>T (p.Gln4303Ter) rs371030180
NM_001369.3(DNAH5):c.12910-1G>C rs1561097225
NM_001369.3(DNAH5):c.12973C>T (p.Gln4325Ter) rs1273109738
NM_001369.3(DNAH5):c.13060del (p.Ala4354fs) rs1370489117
NM_001369.3(DNAH5):c.13194_13197del (p.Asp4398fs) rs727502971
NM_001369.3(DNAH5):c.13338+5G>C rs374718437
NM_001369.3(DNAH5):c.13458dup (p.Asn4487Ter) rs775696136
NM_001369.3(DNAH5):c.1351_1355del (p.Gln451fs) rs2151981160
NM_001369.3(DNAH5):c.1731-1G>C rs2547093291
NM_001369.3(DNAH5):c.1852C>T (p.Arg618Ter) rs778780449
NM_001369.3(DNAH5):c.2261dup (p.Met754fs) rs672601333
NM_001369.3(DNAH5):c.2283_2284del (p.Arg761fs) rs1462578042
NM_001369.3(DNAH5):c.3598+2T>C rs981267400
NM_001369.3(DNAH5):c.376del (p.Val126fs) rs35129409
NM_001369.3(DNAH5):c.4053+1G>A rs1060501466
NM_001369.3(DNAH5):c.4113del (p.Gln1372fs) rs1769225531
NM_001369.3(DNAH5):c.4985G>A (p.Trp1662Ter)
NM_001369.3(DNAH5):c.5059C>T (p.Gln1687Ter) rs1188507108
NM_001369.3(DNAH5):c.5130dup (p.Arg1711fs) rs1580543863
NM_001369.3(DNAH5):c.5281C>T (p.Arg1761Ter) rs148891849
NM_001369.3(DNAH5):c.5563dup (p.Ile1855fs) rs752925056
NM_001369.3(DNAH5):c.5658C>G (p.Tyr1886Ter) rs6880264
NM_001369.3(DNAH5):c.5890_5894dup (p.Leu1966fs) rs1436141222
NM_001369.3(DNAH5):c.6037C>T (p.Arg2013Ter) rs1273352530
NM_001369.3(DNAH5):c.8024_8025dup (p.Val2676Ter) rs1060501459
NM_001369.3(DNAH5):c.8806del (p.Val2936fs) rs2126868543
NM_001369.3(DNAH5):c.9033del (p.Phe3011fs) rs2126813913
NM_001369.3(DNAH5):c.9124C>T (p.Arg3042Ter) rs760595654
NM_001369.3(DNAH5):c.9235C>T (p.Arg3079Ter) rs1175877764
NM_001369.3(DNAH5):c.931_934del (p.Ala311fs) rs2547144109
NM_001369.3(DNAH5):c.9365del (p.Ala3121_Leu3122insTer) rs1060501460
NM_001369.3(DNAH5):c.9514dup (p.His3172fs) rs1561215326
NM_001369.3(DNAH5):c.9606-136_10101+1204delinsTTA
NM_001369.3:c.[13486C>T];[13194_13197del]
NM_003998.4(NFKB1):c.263G>T (p.Cys88Phe) rs1387606271
NM_017950.4(CCDC40):c.967C>T (p.Gln323Ter) rs2510290432
NM_021813.4(BACH2):c.1534C>A (p.Pro512Thr) rs759035058
NM_139285.4(GAS2L2):c.208A>G (p.Asn70Asp) rs2509920625

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