List of variants reported as likely pathogenic for bronchial disorder

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

Total variants: 157

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HGVS	dbSNP	gnomAD frequency
NM_000492.4(CFTR):c.509G>A (p.Arg170His)	rs1800079	0.00045
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu)	rs140455771	0.00041
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp)	rs121908759	0.00039
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg)	rs200321110	0.00035
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr)	rs147422190	0.00034
NM_033656.4(BRWD1):c.5573A>T (p.Gln1858Leu)	rs147211854	0.00031
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr)	rs139468767	0.00016
NM_000492.4(CFTR):c.489+3A>G	rs377729736	0.00016
NM_001038.6(SCNN1A):c.1435T>C (p.Cys479Arg)	rs201873521	0.00016
NM_000492.4(CFTR):c.1001G>A (p.Arg334Gln)	rs397508137	0.00011
NM_000492.4(CFTR):c.2657+2_2657+3insA	rs397508414	0.00009
NM_000492.4(CFTR):c.3908A>T (p.Asn1303Ile)	rs397508636	0.00006
NM_000492.4(CFTR):c.571T>G (p.Phe191Val)	rs141482808	0.00006
NM_000492.4(CFTR):c.1399C>T (p.Leu467Phe)	rs1800089	0.00005
NM_000492.4(CFTR):c.3409A>G (p.Met1137Val)	rs397508553	0.00005
NM_000492.4(CFTR):c.358G>A (p.Ala120Thr)	rs201958172	0.00004
NM_000492.4(CFTR):c.3874-4522A>G	rs895394181	0.00004
NM_000492.4(CFTR):c.794T>G (p.Met265Arg)	rs148519623	0.00004
NM_000492.4(CFTR):c.1125A>C (p.Leu375Phe)	rs73215912	0.00003
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu)	rs193922501	0.00003
NM_000492.4(CFTR):c.3458T>A (p.Val1153Glu)	rs397508567	0.00003
NM_000492.4(CFTR):c.1580A>G (p.Glu527Gly)	rs374453187	0.00002
NM_000492.4(CFTR):c.165-3C>T	rs200337193	0.00002
NM_000492.4(CFTR):c.1766G>A (p.Ser589Asn)	rs397508300	0.00002
NM_000492.4(CFTR):c.330C>A (p.Asp110Glu)	rs397508537	0.00002
NM_000336.3(SCNN1B):c.648dup (p.Glu217fs)	rs747116196	0.00001
NM_000492.4(CFTR):c.1315C>T (p.Pro439Ser)	rs397508187	0.00001
NM_000492.4(CFTR):c.1394C>A (p.Thr465Asn)	rs758900656	0.00001
NM_000492.4(CFTR):c.1438G>T (p.Gly480Cys)	rs79282516	0.00001
NM_000492.4(CFTR):c.1721C>A (p.Pro574His)	rs121908758	0.00001
NM_000492.4(CFTR):c.1724T>A (p.Phe575Tyr)	rs773569201	0.00001
NM_000492.4(CFTR):c.1837G>A (p.Ala613Thr)	rs201978662	0.00001
NM_000492.4(CFTR):c.2126G>A (p.Arg709Gln)	rs397508342	0.00001
NM_000492.4(CFTR):c.2210C>T (p.Ser737Phe)	rs186089140	0.00001
NM_000492.4(CFTR):c.2723C>A (p.Thr908Asn)	rs369521395	0.00001
NM_000492.4(CFTR):c.2738A>G (p.Tyr913Cys)	rs121909008	0.00001
NM_000492.4(CFTR):c.2909G>A (p.Gly970Asp)	rs386134230	0.00001
NM_000492.4(CFTR):c.293A>G (p.Gln98Arg)	rs397508464	0.00001
NM_000492.4(CFTR):c.3158C>T (p.Thr1053Ile)	rs140883683	0.00001
NM_000492.4(CFTR):c.3222T>A (p.Phe1074Leu)	rs186045772	0.00001
NM_000492.4(CFTR):c.3737C>T (p.Thr1246Ile)	rs397508600	0.00001
NM_000492.4(CFTR):c.377G>A (p.Gly126Asp)	rs397508609	0.00001
NM_000492.4(CFTR):c.3873G>C (p.Gln1291His)	rs121909015	0.00001
NM_000492.4(CFTR):c.476T>C (p.Leu159Ser)	rs397508727	0.00001
NM_000492.4(CFTR):c.581G>T (p.Gly194Val)	rs397508763	0.00001
NM_000492.4(CFTR):c.859A>T (p.Asn287Tyr)	rs397508804	0.00001
NM_000492.4(CFTR):c.869+5G>A	rs533959068	0.00001
NM_004651.3(USP11):c.1599G>A (p.Thr533=)	rs777516785	0.00001
46;XX;t(4;14)(p15.2;q13)dn
46;XY;t(7;9)(q21;p23)dn
NM_000336.3(SCNN1B):c.800C>T (p.Pro267Leu)	rs137852709
NM_000492.3(CFTR):c.3468+2dup	rs1554392800
NM_000492.4(CFTR):c.-34C>T	rs756314710
NM_000492.4(CFTR):c.1040G>T (p.Arg347Leu)	rs77932196
NM_000492.4(CFTR):c.1067G>A (p.Trp356Ter)
NM_000492.4(CFTR):c.1116+2T>C
NM_000492.4(CFTR):c.1190dup (p.Thr398fs)
NM_000492.4(CFTR):c.1209+1G>T	rs397508176
NM_000492.4(CFTR):c.1210-3C>G
NM_000492.4(CFTR):c.1261dup (p.Thr421fs)	rs2115903081
NM_000492.4(CFTR):c.1313del (p.Thr438fs)
NM_000492.4(CFTR):c.1334del (p.Asn445fs)	rs2115903565
NM_000492.4(CFTR):c.1351G>T (p.Gly451Ter)
NM_000492.4(CFTR):c.1397C>T (p.Ser466Leu)	rs121908805
NM_000492.4(CFTR):c.1423del (p.Leu475fs)
NM_000492.4(CFTR):c.1439G>A (p.Gly480Asp)	rs397508208
NM_000492.4(CFTR):c.1465_1469del (p.Ser489fs)	rs2115937855
NM_000492.4(CFTR):c.1468_1471del (p.Phe490fs)
NM_000492.4(CFTR):c.1469del (p.Phe490fs)	rs775663783
NM_000492.4(CFTR):c.1516A>C (p.Ile506Leu)	rs1800091
NM_000492.4(CFTR):c.1538A>G (p.Asp513Gly)	rs397508225
NM_000492.4(CFTR):c.1616_1617insTT (p.Ile539_Val540insTer)
NM_000492.4(CFTR):c.1673T>A (p.Leu558Ter)
NM_000492.4(CFTR):c.1697C>A (p.Ala566Asp)	rs1375786834
NM_000492.4(CFTR):c.1763A>T (p.Glu588Val)	rs397508297
NM_000492.4(CFTR):c.1766+2T>A	rs1554389062
NM_000492.4(CFTR):c.1884del (p.Thr629fs)
NM_000492.4(CFTR):c.198del (p.Pro67fs)
NM_000492.4(CFTR):c.2252G>T (p.Arg751Leu)	rs397508357
NM_000492.4(CFTR):c.2381_2450del (p.Val794fs)
NM_000492.4(CFTR):c.2475_2478dup (p.Glu827fs)	rs1554389486
NM_000492.4(CFTR):c.2489dup (p.Glu831fs)
NM_000492.4(CFTR):c.2490+1G>C
NM_000492.4(CFTR):c.2573del (p.Ser858fs)	rs1562908997
NM_000492.4(CFTR):c.25dup (p.Ala9fs)	rs1584764596
NM_000492.4(CFTR):c.2755del (p.Tyr919fs)
NM_000492.4(CFTR):c.2828del (p.Thr943fs)
NM_000492.4(CFTR):c.2908+1G>A	rs1060503164
NM_000492.4(CFTR):c.2936A>C (p.Asp979Ala)	rs397508462
NM_000492.4(CFTR):c.2977G>T (p.Asp993Tyr)	rs397508468
NM_000492.4(CFTR):c.2989-3C>G	rs397508471
NM_000492.4(CFTR):c.3014T>G (p.Ile1005Arg)	rs397508479
NM_000492.4(CFTR):c.3068T>G (p.Ile1023Arg)	rs756219310
NM_000492.4(CFTR):c.3078del (p.Phe1026fs)
NM_000492.4(CFTR):c.308del (p.Gly103fs)
NM_000492.4(CFTR):c.3107C>T (p.Thr1036Ile)	rs397508498
NM_000492.4(CFTR):c.3134C>A (p.Ser1045Tyr)	rs1584821736
NM_000492.4(CFTR):c.3194T>G (p.Leu1065Arg)	rs121909036
NM_000492.4(CFTR):c.3231_3232del (p.Phe1078fs)	rs779177972
NM_000492.4(CFTR):c.323C>T (p.Ser108Phe)	rs397508520
NM_000492.4(CFTR):c.326A>G (p.Tyr109Cys)	rs121909031
NM_000492.4(CFTR):c.3302T>G (p.Met1101Arg)	rs36210737
NM_000492.4(CFTR):c.3330del (p.Phe1111fs)
NM_000492.4(CFTR):c.3353C>G (p.Ser1118Cys)	rs146521846
NM_000492.4(CFTR):c.3407_3422del (p.Ala1136fs)
NM_000492.4(CFTR):c.3444del (p.Ser1149fs)
NM_000492.4(CFTR):c.3475T>C (p.Ser1159Pro)	rs397508572
NM_000492.4(CFTR):c.3492del (p.Phe1164fs)
NM_000492.4(CFTR):c.3495del (p.Lys1165fs)	rs1057516970
NM_000492.4(CFTR):c.349C>G (p.Arg117Gly)	rs77834169
NM_000492.4(CFTR):c.3546del (p.Pro1181_Tyr1182insTer)	rs1792671655
NM_000492.4(CFTR):c.3622_3623delinsT (p.Gly1208fs)
NM_000492.4(CFTR):c.3672dup (p.Ala1225fs)
NM_000492.4(CFTR):c.3717+5G>A	rs193922520
NM_000492.4(CFTR):c.3718-1G>C
NM_000492.4(CFTR):c.3743C>G (p.Ser1248Ter)
NM_000492.4(CFTR):c.3745_3750delinsC (p.Gly1249fs)
NM_000492.4(CFTR):c.3796G>T (p.Glu1266Ter)	rs1584837090
NM_000492.4(CFTR):c.3932_3933delinsAATATG (p.Ser1311fs)
NM_000492.4(CFTR):c.3944_3951del (p.Ile1315fs)	rs754392413
NM_000492.4(CFTR):c.3964-3C>G	rs397508652
NM_000492.4(CFTR):c.3988C>T (p.Gln1330Ter)	rs375661578
NM_000492.4(CFTR):c.3988_3989del (p.Gln1330fs)	rs1057516457
NM_000492.4(CFTR):c.40_44del (p.Lys14fs)
NM_000492.4(CFTR):c.4262T>A (p.Val1421Glu)
NM_000492.4(CFTR):c.4262_4263del (p.Val1421fs)
NM_000492.4(CFTR):c.4297G>T (p.Glu1433Ter)	rs750559671
NM_000492.4(CFTR):c.4339del (p.Arg1446_Val1447insTer)	rs1554397772
NM_000492.4(CFTR):c.4340del (p.Val1447fs)	rs2116226496
NM_000492.4(CFTR):c.434T>A (p.Leu145His)	rs397508712
NM_000492.4(CFTR):c.443T>A (p.Ile148Asn)	rs35516286
NM_000492.4(CFTR):c.473G>A (p.Ser158Asn)	rs397508725
NM_000492.4(CFTR):c.482del (p.Tyr161fs)
NM_000492.4(CFTR):c.483_484insCC (p.Lys162fs)	rs1584785196
NM_000492.4(CFTR):c.498del (p.Lys166fs)
NM_000492.4(CFTR):c.523A>G (p.Ile175Val)	rs397508744
NM_000492.4(CFTR):c.53+1G>C
NM_000492.4(CFTR):c.544dup (p.Ser182fs)	rs1584786454
NM_000492.4(CFTR):c.558C>G (p.Asn186Lys)	rs397508753
NM_000492.4(CFTR):c.580-2A>C	rs193922730
NM_000492.4(CFTR):c.580G>A (p.Gly194Arg)	rs376008630
NM_000492.4(CFTR):c.618dup (p.Gln207fs)
NM_000492.4(CFTR):c.709C>G (p.Gln237Glu)	rs397508784
NM_000492.4(CFTR):c.717del (p.Gly239_Leu240insTer)	rs1554380497
NM_000492.4(CFTR):c.80G>A (p.Gly27Glu)	rs397508797
NM_000492.4(CFTR):c.850del (p.Lys283_Met284insTer)
NM_000492.4(CFTR):c.869+1G>C	rs1330431481
NM_000492.4(CFTR):c.869+1_869+3del
NM_000492.4(CFTR):c.870-1113_870-1110del	rs397508809
NM_000492.4(CFTR):c.933C>G (p.Phe311Leu)	rs121909016
NM_000492.4(CFTR):c.989dup (p.Ile331fs)
NM_000492.4(CFTR):c.9del (p.Arg3fs)
NM_001038.6(SCNN1A):c.1439+1G>A	rs1369791519
NM_001038.6(SCNN1A):c.1522C>T (p.Arg508Ter)	rs137852634
NM_001038.6(SCNN1A):c.69del (p.Asn24fs)	rs1565488675
NM_001038.6(SCNN1A):c.942del (p.Asn315fs)	rs1555112332
NM_001039.4(SCNN1G):c.142dup (p.Arg48fs)	rs1596760831

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