List of variants reported as likely pathogenic for Primary ciliary dyskinesia 3 by Fulgent Genetics, Fulgent Genetics

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 104

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HGVS	dbSNP	gnomAD frequency
NM_001369.3(DNAH5):c.2431+5G>A	rs369244905	0.00026
NM_001369.3(DNAH5):c.4361G>A (p.Arg1454Gln)	rs542708170	0.00013
NM_001369.3(DNAH5):c.7502G>C (p.Arg2501Pro)	rs78853309	0.00011
NM_001369.3(DNAH5):c.10229C>T (p.Thr3410Met)	rs186180802	0.00005
NM_001369.3(DNAH5):c.4116G>C (p.Gln1372His)	rs139463637	0.00003
NM_001369.3(DNAH5):c.46C>T (p.Arg16Ter)	rs772230378	0.00003
NM_001369.3(DNAH5):c.5290T>C (p.Ser1764Pro)	rs748763552	0.00002
NM_001369.3(DNAH5):c.6763C>T (p.Arg2255Ter)	rs745918507	0.00002
NM_001369.3(DNAH5):c.8642C>G (p.Ala2881Gly)	rs727502973	0.00002
NM_001369.3(DNAH5):c.10825C>T (p.Gln3609Ter)	rs749980719	0.00001
NM_001369.3(DNAH5):c.2224C>T (p.Arg742Ter)	rs776686983	0.00001
NM_001369.3(DNAH5):c.2533C>T (p.Gln845Ter)	rs1060501458	0.00001
NM_001369.3(DNAH5):c.4314del (p.Asn1438fs)	rs765355281	0.00001
NM_001369.3(DNAH5):c.439-2A>G	rs565076112	0.00001
NM_001369.3(DNAH5):c.57+1G>A	rs376118760	0.00001
NM_001369.3(DNAH5):c.5883-1G>A	rs1195745037	0.00001
NM_001369.3(DNAH5):c.6304C>T (p.Arg2102Cys)	rs767019228	0.00001
NM_001369.3(DNAH5):c.8010+3A>G	rs748171209	0.00001
NM_001369.3(DNAH5):c.8030G>A (p.Arg2677Gln)	rs886043448	0.00001
NM_001369.3(DNAH5):c.8314C>T (p.Arg2772Ter)	rs781469274	0.00001
NM_001369.3(DNAH5):c.9018C>T (p.Gly3006=)	rs1754239719	0.00001
NM_001369.3(DNAH5):c.9502C>T (p.Arg3168Ter)	rs863224504	0.00001
NM_001369.3(DNAH5):c.9694C>T (p.Gln3232Ter)	rs369683202	0.00001
NM_001369.3(DNAH5):c.9778C>T (p.Gln3260Ter)	rs1752923333	0.00001
NM_001369.3(DNAH5):c.9980del (p.Leu3327fs)	rs1752478598	0.00001
NM_001369.3(DNAH5):c.10102-1G>A
NM_001369.3(DNAH5):c.10102-1G>C
NM_001369.3(DNAH5):c.10555+1G>C
NM_001369.3(DNAH5):c.10719del (p.Ser3574fs)	rs765980788
NM_001369.3(DNAH5):c.10757T>A (p.Leu3586Ter)
NM_001369.3(DNAH5):c.10996A>T (p.Arg3666Ter)	rs2546611536
NM_001369.3(DNAH5):c.11389C>T (p.Gln3797Ter)	rs1467939954
NM_001369.3(DNAH5):c.11585del (p.Pro3862fs)
NM_001369.3(DNAH5):c.11658_11668del (p.Leu3887fs)	rs2126607061
NM_001369.3(DNAH5):c.1181del (p.Thr394fs)
NM_001369.3(DNAH5):c.11883+1G>A
NM_001369.3(DNAH5):c.12499+1dup
NM_001369.3(DNAH5):c.12586C>T (p.Gln4196Ter)	rs886059965
NM_001369.3(DNAH5):c.12631G>T (p.Glu4211Ter)	rs762673561
NM_001369.3(DNAH5):c.1302del (p.Ala435fs)
NM_001369.3(DNAH5):c.13126-1G>C
NM_001369.3(DNAH5):c.13141C>T (p.Gln4381Ter)
NM_001369.3(DNAH5):c.13774C>T (p.Arg4592Ter)	rs758112779
NM_001369.3(DNAH5):c.1891dup (p.Arg631fs)
NM_001369.3(DNAH5):c.2053-2A>G
NM_001369.3(DNAH5):c.2136_2139dup (p.Ile714fs)
NM_001369.3(DNAH5):c.2137C>T (p.Gln713Ter)	rs2547087810
NM_001369.3(DNAH5):c.2557G>T (p.Glu853Ter)
NM_001369.3(DNAH5):c.2577+1G>A	rs867422125
NM_001369.3(DNAH5):c.2599C>T (p.Gln867Ter)	rs1484394072
NM_001369.3(DNAH5):c.2695G>T (p.Glu899Ter)
NM_001369.3(DNAH5):c.2732dup (p.Asn911fs)
NM_001369.3(DNAH5):c.3142dup (p.Val1048fs)
NM_001369.3(DNAH5):c.3396+1G>A
NM_001369.3(DNAH5):c.3415G>C (p.Asp1139His)	rs1554085372
NM_001369.3(DNAH5):c.3466del (p.Ile1156fs)	rs775866092
NM_001369.3(DNAH5):c.3589_3590del (p.Leu1197fs)	rs1561477725
NM_001369.3(DNAH5):c.3598+1G>A	rs2151920209
NM_001369.3(DNAH5):c.3598+2T>C	rs981267400
NM_001369.3(DNAH5):c.3598G>A (p.Ala1200Thr)
NM_001369.3(DNAH5):c.3675C>G (p.Tyr1225Ter)	rs769582678
NM_001369.3(DNAH5):c.3721A>T (p.Lys1241Ter)
NM_001369.3(DNAH5):c.4052del (p.Asp1350_Leu1351insTer)
NM_001369.3(DNAH5):c.4400dup (p.Leu1467fs)	rs1252973555
NM_001369.3(DNAH5):c.4597-2A>T	rs756687157
NM_001369.3(DNAH5):c.5131C>T (p.Arg1711Ter)	rs760869074
NM_001369.3(DNAH5):c.5271+1G>A
NM_001369.3(DNAH5):c.54_57+5del	rs2547213808
NM_001369.3(DNAH5):c.5556del (p.Asp1852fs)
NM_001369.3(DNAH5):c.5632_5633del (p.Leu1878fs)
NM_001369.3(DNAH5):c.5665_5666del (p.Leu1889fs)	rs767779749
NM_001369.3(DNAH5):c.5999dup (p.Tyr2000Ter)	rs1372787085
NM_001369.3(DNAH5):c.6083G>A (p.Trp2028Ter)	rs2546879148
NM_001369.3(DNAH5):c.6088T>G (p.Cys2030Gly)	rs1763453207
NM_001369.3(DNAH5):c.6293del (p.Lys2098fs)	rs1060501461
NM_001369.3(DNAH5):c.6423_6424del (p.Cys2141_Glu2142delinsTer)	rs1580457416
NM_001369.3(DNAH5):c.6508dup (p.Arg2170fs)	rs878854458
NM_001369.3(DNAH5):c.6657C>A (p.Tyr2219Ter)	rs1270916321
NM_001369.3(DNAH5):c.6739C>T (p.Gln2247Ter)	rs2151814430
NM_001369.3(DNAH5):c.6842-1G>A
NM_001369.3(DNAH5):c.7343del (p.Glu2448fs)
NM_001369.3(DNAH5):c.7400del (p.Pro2467fs)
NM_001369.3(DNAH5):c.7408-1G>A	rs2546807137
NM_001369.3(DNAH5):c.7475_7500delinsTTG (p.Ala2492fs)	rs2546806383
NM_001369.3(DNAH5):c.7500_7503del (p.Arg2501fs)	rs1465499923
NM_001369.3(DNAH5):c.7522dup (p.Leu2508fs)
NM_001369.3(DNAH5):c.7569_7570insA (p.Pro2524fs)
NM_001369.3(DNAH5):c.7647C>G (p.Tyr2549Ter)	rs2546801150
NM_001369.3(DNAH5):c.7753-1G>T	rs2546794222
NM_001369.3(DNAH5):c.8032C>T (p.Gln2678Ter)	rs988596344
NM_001369.3(DNAH5):c.8044C>T (p.Gln2682Ter)	rs1199634064
NM_001369.3(DNAH5):c.8360_8361insT (p.Lys2787fs)	rs1757084798
NM_001369.3(DNAH5):c.8385del (p.Asp2796fs)	rs1178766548
NM_001369.3(DNAH5):c.8528T>C (p.Phe2843Ser)	rs77377082
NM_001369.3(DNAH5):c.8692G>T (p.Glu2898Ter)
NM_001369.3(DNAH5):c.877A>T (p.Arg293Ter)
NM_001369.3(DNAH5):c.877dup (p.Arg293fs)	rs781566109
NM_001369.3(DNAH5):c.8848G>T (p.Gly2950Ter)	rs1338867680
NM_001369.3(DNAH5):c.8999del (p.Arg3000fs)	rs1580180757
NM_001369.3(DNAH5):c.9272dup (p.Glu3093fs)
NM_001369.3(DNAH5):c.958_959dup (p.Lys322fs)	rs752110126
NM_001369.3(DNAH5):c.9620del (p.Leu3207fs)	rs769691641
NM_001369.3(DNAH5):c.9805del (p.Ile3269fs)	rs2546656292
NM_001369.3(DNAH5):c.9975C>A (p.Cys3325Ter)	rs771715883

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