List of variants reported as pathogenic for tracheal disorder by Fulgent Genetics, Fulgent Genetics

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

Total variants: 143

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HGVS	dbSNP	gnomAD frequency
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val)	rs17580	0.02950
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp)	rs121908759	0.00039
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His)	rs75541969	0.00033
NM_000492.4(CFTR):c.2988+1G>A	rs75096551	0.00030
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter)	rs113993959	0.00029
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp)	rs75527207	0.00022
NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter)	rs77010898	0.00019
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys)	rs80034486	0.00016
NM_000492.4(CFTR):c.617T>G (p.Leu206Trp)	rs121908752	0.00013
NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter)	rs74597325	0.00012
NM_000492.3(CFTR):c.3718-2477C>T	rs75039782	0.00011
NM_000492.4(CFTR):c.489+1G>T	rs78756941	0.00011
NM_000492.4(CFTR):c.1705T>G (p.Tyr569Asp)	rs397508276	0.00010
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp)	rs121909011	0.00009
NM_000492.4(CFTR):c.1585-1G>A	rs76713772	0.00008
NM_000492.4(CFTR):c.1646G>A (p.Ser549Asn)	rs121908755	0.00006
NM_000492.4(CFTR):c.1675G>A (p.Ala559Thr)	rs75549581	0.00006
NM_000492.4(CFTR):c.254G>A (p.Gly85Glu)	rs75961395	0.00006
NM_000492.4(CFTR):c.2657+5G>A	rs80224560	0.00006
NM_000492.4(CFTR):c.3140-26A>G	rs76151804	0.00006
NM_000492.4(CFTR):c.3196C>T (p.Arg1066Cys)	rs78194216	0.00006
NM_000492.4(CFTR):c.1766+1G>A	rs121908748	0.00004
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu)	rs368505753	0.00004
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu)	rs397508442	0.00004
NM_000492.4(CFTR):c.3484C>T (p.Arg1162Ter)	rs74767530	0.00004
NM_000492.4(CFTR):c.1040G>A (p.Arg347His)	rs77932196	0.00003
NM_000492.4(CFTR):c.1397C>G (p.Ser466Ter)	rs121908805	0.00003
NM_000492.4(CFTR):c.1466C>A (p.Ser489Ter)	rs397508211	0.00003
NM_000492.4(CFTR):c.1680-886A>G	rs397508266	0.00003
NM_000492.4(CFTR):c.2668C>T (p.Gln890Ter)	rs79633941	0.00003
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp)	rs202179988	0.00003
NM_000492.4(CFTR):c.3276C>A (p.Tyr1092Ter)	rs121908761	0.00003
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=)	rs139729994	0.00003
NM_000492.4(CFTR):c.1055G>A (p.Arg352Gln)	rs121908753	0.00002
NM_000492.4(CFTR):c.1400T>C (p.Leu467Pro)	rs139573311	0.00002
NM_000492.4(CFTR):c.1679G>C (p.Arg560Thr)	rs80055610	0.00002
NM_000492.4(CFTR):c.178G>T (p.Glu60Ter)	rs77284892	0.00002
NM_000492.4(CFTR):c.2491G>T (p.Glu831Ter)	rs397508387	0.00002
NM_000492.4(CFTR):c.274-1G>A	rs121908792	0.00002
NM_000492.4(CFTR):c.3095A>G (p.Tyr1032Cys)	rs144055758	0.00002
NM_000492.4(CFTR):c.3266G>A (p.Trp1089Ter)	rs78802634	0.00002
NM_000492.4(CFTR):c.3302T>A (p.Met1101Lys)	rs36210737	0.00002
NM_000492.4(CFTR):c.3472C>T (p.Arg1158Ter)	rs79850223	0.00002
NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter)	rs374705585	0.00002
NM_000492.4(CFTR):c.532G>A (p.Gly178Arg)	rs80282562	0.00002
NM_000492.4(CFTR):c.988G>T (p.Gly330Ter)	rs79031340	0.00002
NM_000336.3(SCNN1B):c.1696C>T (p.Arg566Ter)	rs137852704	0.00001
NM_000336.3(SCNN1B):c.648dup (p.Glu217fs)	rs747116196	0.00001
NM_000492.4(CFTR):c.1013C>T (p.Thr338Ile)	rs77409459	0.00001
NM_000492.4(CFTR):c.1475C>T (p.Ser492Phe)	rs121909017	0.00001
NM_000492.4(CFTR):c.1477C>T (p.Gln493Ter)	rs77101217	0.00001
NM_000492.4(CFTR):c.1517T>C (p.Ile506Thr)	rs397508224	0.00001
NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg)	rs121909005	0.00001
NM_000492.4(CFTR):c.1687T>A (p.Tyr563Asn)	rs121909006	0.00001
NM_000492.4(CFTR):c.1753G>T (p.Glu585Ter)	rs397508296	0.00001
NM_000492.4(CFTR):c.1766+5G>T	rs121908796	0.00001
NM_000492.4(CFTR):c.1826A>G (p.His609Arg)	rs397508310	0.00001
NM_000492.4(CFTR):c.1837G>A (p.Ala613Thr)	rs201978662	0.00001
NM_000492.4(CFTR):c.223C>T (p.Arg75Ter)	rs121908749	0.00001
NM_000492.4(CFTR):c.2353C>T (p.Arg785Ter)	rs374946172	0.00001
NM_000492.4(CFTR):c.2464G>T (p.Glu822Ter)	rs397508378	0.00001
NM_000492.4(CFTR):c.273+1G>A	rs121908791	0.00001
NM_000492.4(CFTR):c.2909G>A (p.Gly970Asp)	rs386134230	0.00001
NM_000492.4(CFTR):c.2T>C (p.Met1Thr)	rs397508476	0.00001
NM_000492.4(CFTR):c.3197G>A (p.Arg1066His)	rs121909019	0.00001
NM_000492.4(CFTR):c.3587C>G (p.Ser1196Ter)	rs121908763	0.00001
NM_000492.4(CFTR):c.3659del (p.Thr1220fs)	rs121908811	0.00001
NM_000492.4(CFTR):c.3731G>A (p.Gly1244Glu)	rs267606723	0.00001
NM_000492.4(CFTR):c.3744del (p.Lys1250fs)	rs121908784	0.00001
NM_000492.4(CFTR):c.4364C>G (p.Ser1455Ter)	rs121909043	0.00001
NM_000492.4(CFTR):c.595C>T (p.His199Tyr)	rs121908802	0.00001
NM_000492.4(CFTR):c.613C>T (p.Pro205Ser)	rs121908803	0.00001
NM_000492.4(CFTR):c.695T>A (p.Val232Asp)	rs397508783	0.00001
NM_001038.6(SCNN1A):c.1449del (p.Tyr484fs)	rs756434927	0.00001
NM_001038.6(SCNN1A):c.574del (p.Arg192fs)	rs767638989	0.00001
NM_001038.6(SCNN1A):c.875+1G>A	rs142439390	0.00001
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)	rs113993960
NM_000492.4(CFTR):c.1021T>C (p.Ser341Pro)	rs397508144
NM_000492.4(CFTR):c.1021_1022dup (p.Phe342fs)	rs387906360
NM_000492.4(CFTR):c.1040G>C (p.Arg347Pro)	rs77932196
NM_000492.4(CFTR):c.1040G>T (p.Arg347Leu)	rs77932196
NM_000492.4(CFTR):c.1219G>T (p.Glu407Ter)	rs766063304
NM_000492.4(CFTR):c.1322T>C (p.Leu441Pro)	rs397508188
NM_000492.4(CFTR):c.1327_1330dup (p.Ile444fs)	rs397508189
NM_000492.4(CFTR):c.1364C>A (p.Ala455Glu)	rs74551128
NM_000492.4(CFTR):c.1366G>T (p.Val456Phe)	rs397508195
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala)	rs193922500
NM_000492.4(CFTR):c.1477_1478del (p.Gln493fs)	rs121908775
NM_000492.4(CFTR):c.1509_1510delinsT (p.Lys503fs)
NM_000492.4(CFTR):c.1516ATC[1] (p.Ile507del)	rs121908745
NM_000492.4(CFTR):c.1692del (p.Asp565fs)	rs193922505
NM_000492.4(CFTR):c.1742dup (p.Leu581fs)	rs397508290
NM_000492.4(CFTR):c.174_177del (p.Asp58fs)	rs397508295
NM_000492.4(CFTR):c.1820_1903del (p.Met607_Gln634del)	rs121908777
NM_000492.4(CFTR):c.1911del (p.Gln637fs)	rs1554389296
NM_000492.4(CFTR):c.2012del (p.Ser670_Leu671insTer)	rs121908812
NM_000492.4(CFTR):c.2017G>T (p.Gly673Ter)	rs397508331
NM_000492.4(CFTR):c.2051_2052delinsG (p.Lys684fs)	rs121908799
NM_000492.4(CFTR):c.2052del (p.Lys684fs)	rs121908746
NM_000492.4(CFTR):c.2052dup (p.Gln685fs)	rs121908746
NM_000492.4(CFTR):c.2453del (p.Leu818fs)	rs397515498
NM_000492.4(CFTR):c.2472del (p.Asn825fs)	rs397508380
NM_000492.4(CFTR):c.2490+1G>A	rs141158996
NM_000492.4(CFTR):c.2538G>A (p.Trp846Ter)	rs267606722
NM_000492.4(CFTR):c.2583del (p.Phe861fs)	rs397508399
NM_000492.4(CFTR):c.2601dup (p.Val868fs)	rs397508405
NM_000492.4(CFTR):c.262_263del (p.Leu88fs)	rs121908769
NM_000492.4(CFTR):c.263T>A (p.Leu88Ter)	rs397508412
NM_000492.4(CFTR):c.263T>G (p.Leu88Ter)	rs397508412
NM_000492.4(CFTR):c.2737_2738insG (p.Tyr913Ter)	rs121908788
NM_000492.4(CFTR):c.2822del (p.Leu941fs)	rs762844777
NM_000492.4(CFTR):c.2856G>A (p.Met952Ile)	rs151048781
NM_000492.4(CFTR):c.2989-1G>A	rs397508470
NM_000492.4(CFTR):c.310del (p.Arg104fs)	rs397508499
NM_000492.4(CFTR):c.328G>C (p.Asp110His)	rs113993958
NM_000492.4(CFTR):c.3353C>T (p.Ser1118Phe)	rs146521846
NM_000492.4(CFTR):c.346G>A (p.Glu116Lys)	rs397508571
NM_000492.4(CFTR):c.349C>T (p.Arg117Cys)	rs77834169
NM_000492.4(CFTR):c.350G>A (p.Arg117His)	rs78655421
NM_000492.4(CFTR):c.3605del (p.Asp1202fs)	rs397508587
NM_000492.4(CFTR):c.3617C>G (p.Ser1206Ter)	rs397508588
NM_000492.4(CFTR):c.3873+1G>A	rs143570767
NM_000492.4(CFTR):c.3883_3886del (p.Ile1295fs)	rs387906373
NM_000492.4(CFTR):c.3889dup (p.Ser1297fs)	rs121908808
NM_000492.4(CFTR):c.3908del (p.Asn1303fs)	rs397508637
NM_000492.4(CFTR):c.4004T>C (p.Leu1335Pro)	rs397508658
NM_000492.4(CFTR):c.4046G>A (p.Gly1349Asp)	rs193922525
NM_000492.4(CFTR):c.4077_4080delinsAA (p.Val1360fs)	rs397508668
NM_000492.4(CFTR):c.4200_4201del (p.Cys1400_Glu1401delinsTer)	rs397508695
NM_000492.4(CFTR):c.4234C>T (p.Gln1412Ter)	rs397508702
NM_000492.4(CFTR):c.4242+1G>A	rs372227120
NM_000492.4(CFTR):c.429del (p.Phe143fs)	rs387906364
NM_000492.4(CFTR):c.4417G>T (p.Glu1473Ter)	rs397508716
NM_000492.4(CFTR):c.494T>C (p.Leu165Ser)	rs397508736
NM_000492.4(CFTR):c.575A>G (p.Asp192Gly)	rs397508758
NM_000492.4(CFTR):c.577G>T (p.Glu193Ter)	rs397508759
NM_000492.4(CFTR):c.580-1G>T	rs121908793
NM_000492.4(CFTR):c.658C>T (p.Gln220Ter)	rs397508778
NM_000492.4(CFTR):c.803del (p.Asn268fs)	rs121908772
NM_000492.4(CFTR):c.808C>T (p.Gln270Ter)	rs1584787716
NM_000492.4(CFTR):c.929TCT[2] (p.Phe312del)	rs121908768
NM_001038.6(SCNN1A):c.1474C>T (p.Arg492Ter)
NM_001038.6(SCNN1A):c.505_506del (p.Thr169fs)

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