List of variants reported as pathogenic for lung disorder by Baylor Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 320

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HGVS	dbSNP	gnomAD frequency
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val)	rs150212784	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_000492.4(CFTR):c.3297C>A (p.Phe1099Leu)	rs747754623	0.00011
NM_000492.4(CFTR):c.489+1G>T	rs78756941	0.00011
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly)	rs191456345	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.2856G>C (p.Met952Ile)	rs151048781	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.3209G>A (p.Arg1070Gln)	rs78769542	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.2988G>A (p.Gln996=)	rs121908797	0.00004
NM_000492.4(CFTR):c.3484C>T (p.Arg1162Ter)	rs74767530	0.00004
NM_000492.4(CFTR):c.579+1G>T	rs77188391	0.00004
NM_000543.5(SMPD1):c.557C>T (p.Pro186Leu)	rs1057517195	0.00004
NM_022081.6(HPS4):c.649C>T (p.Arg217Ter)	rs119471023	0.00004
NM_000195.5(HPS1):c.517C>T (p.Arg173Ter)	rs538274657	0.00003
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.1841A>G (p.Asp614Gly)	rs201124247	0.00003
NM_000492.4(CFTR):c.2668C>T (p.Gln890Ter)	rs79633941	0.00003
NM_000492.4(CFTR):c.2739T>A (p.Tyr913Ter)	rs149790377	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.653T>A (p.Leu218Ter)	rs397508777	0.00003
NM_000195.5(HPS1):c.1857+2T>C	rs374689398	0.00002
NM_000195.5(HPS1):c.355del (p.His119fs)	rs281865075	0.00002
NM_000195.5(HPS1):c.398+2T>C	rs1486224265	0.00002
NM_000195.5(HPS1):c.716T>C (p.Leu239Pro)	rs281865080	0.00002
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.1682C>A (p.Ala561Glu)	rs121909047	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.490-1G>A	rs397508734	0.00002
NM_000492.4(CFTR):c.532G>A (p.Gly178Arg)	rs80282562	0.00002
NM_000492.4(CFTR):c.579+3A>G	rs397508761	0.00002
NM_000492.4(CFTR):c.988G>T (p.Gly330Ter)	rs79031340	0.00002
NM_000195.5(HPS1):c.1315C>T (p.Arg439Ter)	rs1185127836	0.00001
NM_000195.5(HPS1):c.1744-2A>C	rs281865088	0.00001
NM_000195.5(HPS1):c.1807C>T (p.Gln603Ter)	rs886077189	0.00001
NM_000195.5(HPS1):c.1858-1G>A	rs758797992	0.00001
NM_000195.5(HPS1):c.391C>T (p.Arg131Ter)	rs281865076	0.00001
NM_000195.5(HPS1):c.988-1G>T	rs764927038	0.00001
NM_000492.4(CFTR):c.1013C>T (p.Thr338Ile)	rs77409459	0.00001
NM_000492.4(CFTR):c.1081del (p.Trp361fs)	rs387906361	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.1505T>C (p.Ile502Thr)	rs397508222	0.00001
NM_000492.4(CFTR):c.1572C>A (p.Cys524Ter)	rs121908754	0.00001
NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg)	rs121909005	0.00001
NM_000492.4(CFTR):c.166G>A (p.Glu56Lys)	rs397508256	0.00001
NM_000492.4(CFTR):c.1673T>C (p.Leu558Ser)	rs193922504	0.00001
NM_000492.4(CFTR):c.1680-1G>A	rs121908794	0.00001
NM_000492.4(CFTR):c.1687T>A (p.Tyr563Asn)	rs121909006	0.00001
NM_000492.4(CFTR):c.1721C>A (p.Pro574His)	rs121908758	0.00001
NM_000492.4(CFTR):c.1753G>T (p.Glu585Ter)	rs397508296	0.00001
NM_000492.4(CFTR):c.1766+3A>G	rs397508298	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.2125C>T (p.Arg709Ter)	rs121908760	0.00001
NM_000492.4(CFTR):c.223C>T (p.Arg75Ter)	rs121908749	0.00001
NM_000492.4(CFTR):c.2290C>T (p.Arg764Ter)	rs121908810	0.00001
NM_000492.4(CFTR):c.234dup (p.Trp79fs)	rs1189377616	0.00001
NM_000492.4(CFTR):c.2353C>T (p.Arg785Ter)	rs374946172	0.00001
NM_000492.4(CFTR):c.2417A>G (p.Asp806Gly)	rs397508375	0.00001
NM_000492.4(CFTR):c.2464G>T (p.Glu822Ter)	rs397508378	0.00001
NM_000492.4(CFTR):c.2490+2T>C	rs1057516216	0.00001
NM_000492.4(CFTR):c.2537G>A (p.Trp846Ter)	rs397508393	0.00001
NM_000492.4(CFTR):c.273+1G>A	rs121908791	0.00001
NM_000492.4(CFTR):c.2810dup (p.Val938fs)	rs193922510	0.00001
NM_000492.4(CFTR):c.292C>T (p.Gln98Ter)	rs397508461	0.00001
NM_000492.4(CFTR):c.2930C>T (p.Ser977Phe)	rs141033578	0.00001
NM_000492.4(CFTR):c.293A>G (p.Gln98Arg)	rs397508464	0.00001
NM_000492.4(CFTR):c.3107C>A (p.Thr1036Asn)	rs397508498	0.00001
NM_000492.4(CFTR):c.3197G>A (p.Arg1066His)	rs121909019	0.00001
NM_000492.4(CFTR):c.3230T>C (p.Leu1077Pro)	rs139304906	0.00001
NM_000492.4(CFTR):c.3587C>G (p.Ser1196Ter)	rs121908763	0.00001
NM_000492.4(CFTR):c.3612G>A (p.Trp1204Ter)	rs121908765	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.3752G>A (p.Ser1251Asn)	rs74503330	0.00001
NM_000492.4(CFTR):c.3844T>C (p.Trp1282Arg)	rs397508616	0.00001
NM_000492.4(CFTR):c.4243-2A>G	rs397508705	0.00001
NM_000492.4(CFTR):c.4364C>G (p.Ser1455Ter)	rs121909043	0.00001
NM_000492.4(CFTR):c.579+5G>A	rs78440224	0.00001
NM_000492.4(CFTR):c.580-2A>G	rs193922730	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_000492.4(CFTR):c.825C>G (p.Tyr275Ter)	rs193922532	0.00001
NM_000492.4(CFTR):c.868C>T (p.Gln290Ter)	rs397508808	0.00001
NM_000492.4(CFTR):c.870-2A>G	rs1290078234	0.00001
NM_001204.7(BMPR2):c.1750C>T (p.Arg584Ter)	rs765887545	0.00001
NM_000195.5(HPS1):c.1189del (p.Gln397fs)	rs281865084
NM_000195.5(HPS1):c.1375del (p.Ser459fs)	rs281865086
NM_000195.5(HPS1):c.1472_1487dup (p.His497fs)	rs281865163
NM_000195.5(HPS1):c.1932del (p.Tyr645fs)	rs1239621485
NM_000195.5(HPS1):c.397G>T (p.Glu133Ter)	rs121908386
NM_000195.5(HPS1):c.398+5G>A	rs281865077
NM_000195.5(HPS1):c.467_476del (p.Tyr156fs)	rs1846922474
NM_000195.5(HPS1):c.533del (p.Gln178fs)
NM_000195.5(HPS1):c.962del (p.Gly321fs)	rs281865081
NM_000195.5(HPS1):c.962dup (p.Thr322fs)	rs281865081
NM_000195.5(HPS1):c.972del (p.Met325fs)	rs281865082
NM_000195.5(HPS1):c.972dup (p.Met325fs)	rs281865082
NM_000195.5(HPS1):c.9C>A (p.Cys3Ter)	rs750909242
NM_000368.5(TSC1):c.1715_1722dup (p.Ser575fs)	rs1588309702
NM_000368.5(TSC1):c.2329del (p.Ser777fs)	rs397514780
NM_000388.4(CASR):c.554G>A (p.Arg185Gln)	rs104893689
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)	rs113993960
NM_000492.3(CFTR):c.2175dup (p.Glu726Argfs)	rs746418935
NM_000492.4(CFTR):c.1001G>T (p.Arg334Leu)	rs397508137
NM_000492.4(CFTR):c.1007T>A (p.Ile336Lys)	rs397508139
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.1029del (p.Phe342_Cys343insTer)	rs121908774
NM_000492.4(CFTR):c.1040G>C (p.Arg347Pro)	rs77932196
NM_000492.4(CFTR):c.1068G>A (p.Trp356Ter)	rs397508150
NM_000492.4(CFTR):c.1075_1079delinsAAAAA (p.Gln359_Thr360delinsLysLys)	rs397508152
NM_000492.4(CFTR):c.1083del (p.Trp361fs)	rs387906375
NM_000492.4(CFTR):c.1093_1094del (p.Leu365fs)	rs387906365
NM_000492.4(CFTR):c.1116+1G>A	rs397508158
NM_000492.4(CFTR):c.1130dup (p.Gln378fs)	rs397508163
NM_000492.4(CFTR):c.1135G>T (p.Glu379Ter)	rs397508165
NM_000492.4(CFTR):c.1155_1156dup (p.Asn386fs)	rs121908785
NM_000492.4(CFTR):c.115C>T (p.Gln39Ter)	rs397508168
NM_000492.4(CFTR):c.11C>A (p.Ser4Ter)	rs397508173
NM_000492.4(CFTR):c.1211del	rs1235397597
NM_000492.4(CFTR):c.1219G>T (p.Glu407Ter)	rs766063304
NM_000492.4(CFTR):c.1327_1330dup (p.Ile444fs)	rs397508189
NM_000492.4(CFTR):c.1340del (p.Lys447fs)	rs397508192
NM_000492.4(CFTR):c.1364C>A (p.Ala455Glu)	rs74551128
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala)	rs193922500
NM_000492.4(CFTR):c.1373del (p.Gly458fs)	rs397508196
NM_000492.4(CFTR):c.1393-1G>A	rs397508200
NM_000492.4(CFTR):c.1418del (p.Gly473fs)	rs397508205
NM_000492.4(CFTR):c.1516ATC[1] (p.Ile507del)	rs121908745
NM_000492.4(CFTR):c.1545_1546del (p.Tyr515_Arg516delinsTer)	rs121908776
NM_000492.4(CFTR):c.1558G>T (p.Val520Phe)	rs77646904
NM_000492.4(CFTR):c.1584+2T>C	rs397508231
NM_000492.4(CFTR):c.1585-2A>T	rs397508233
NM_000492.4(CFTR):c.1585-8G>A	rs193922503
NM_000492.4(CFTR):c.164+1G>A	rs397508243
NM_000492.4(CFTR):c.164+1G>C	rs397508243
NM_000492.4(CFTR):c.164+1G>T	rs397508243
NM_000492.4(CFTR):c.1645A>C (p.Ser549Arg)	rs121908757
NM_000492.4(CFTR):c.1650del (p.Gly551fs)	rs397508251
NM_000492.4(CFTR):c.1651G>A (p.Gly551Ser)	rs121909013
NM_000492.4(CFTR):c.1654C>T (p.Gln552Ter)	rs76554633
NM_000492.4(CFTR):c.1679+1G>A	rs397508263
NM_000492.4(CFTR):c.1679G>A (p.Arg560Lys)	rs80055610
NM_000492.4(CFTR):c.1680-877G>T	rs397508261
NM_000492.4(CFTR):c.169T>G (p.Trp57Gly)	rs397508272
NM_000492.4(CFTR):c.1703T>A (p.Leu568Ter)	rs397508273
NM_000492.4(CFTR):c.1736A>G (p.Asp579Gly)	rs397508288
NM_000492.4(CFTR):c.174_177del (p.Asp58fs)	rs397508295
NM_000492.4(CFTR):c.175dup (p.Arg59fs)	rs397508294
NM_000492.4(CFTR):c.1766+2T>A	rs1554389062
NM_000492.4(CFTR):c.1766+2T>C	rs1554389062
NM_000492.4(CFTR):c.178G>A (p.Glu60Lys)	rs77284892
NM_000492.4(CFTR):c.1871_1878del (p.Ser624fs)
NM_000492.4(CFTR):c.1911del (p.Gln637fs)	rs1554389296
NM_000492.4(CFTR):c.1923_1931delinsA (p.Ser641fs)	rs121908779
NM_000492.4(CFTR):c.1973_1985delinsAGAAA	rs121908780
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.2036G>A (p.Trp679Ter)	rs397508333
NM_000492.4(CFTR):c.2052del (p.Lys684fs)	rs121908746
NM_000492.4(CFTR):c.2052dup (p.Gln685fs)	rs121908746
NM_000492.4(CFTR):c.2065C>T (p.Gln689Ter)	rs1584812425
NM_000492.4(CFTR):c.2083dup (p.Glu695fs)	rs397508339
NM_000492.4(CFTR):c.2089dup (p.Arg697fs)	rs397508341
NM_000492.4(CFTR):c.2128A>T (p.Lys710Ter)	rs75115087
NM_000492.4(CFTR):c.2195T>G (p.Leu732Ter)	rs397508350
NM_000492.4(CFTR):c.2215del (p.Val739fs)	rs397508353
NM_000492.4(CFTR):c.233del (p.Phe78fs)	rs397508360
NM_000492.4(CFTR):c.233dup (p.Trp79fs)	rs397508360
NM_000492.4(CFTR):c.2374C>T (p.Arg792Ter)	rs145449046
NM_000492.4(CFTR):c.2440C>T (p.Gln814Ter)	rs397508377
NM_000492.4(CFTR):c.2453del (p.Leu818fs)	rs397515498
NM_000492.4(CFTR):c.2467G>T (p.Glu823Ter)	rs397508379
NM_000492.4(CFTR):c.2472del (p.Asn825fs)	rs397508380
NM_000492.4(CFTR):c.2490+1G>T	rs141158996
NM_000492.4(CFTR):c.2491-2A>G	rs397508386
NM_000492.4(CFTR):c.2538G>A (p.Trp846Ter)	rs267606722
NM_000492.4(CFTR):c.2551C>T (p.Arg851Ter)	rs121909012
NM_000492.4(CFTR):c.2583del (p.Phe861fs)	rs397508399
NM_000492.4(CFTR):c.2589_2599del (p.Ile864fs)	rs397508400
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>G (p.Leu88Ter)	rs397508412
NM_000492.4(CFTR):c.2645G>A (p.Trp882Ter)	rs397508413
NM_000492.4(CFTR):c.2658-2A>G	rs1554390958
NM_000492.4(CFTR):c.271G>A (p.Gly91Arg)	rs121908750
NM_000492.4(CFTR):c.273+3A>C	rs74467662
NM_000492.4(CFTR):c.2735C>A (p.Ser912Ter)	rs121909034
NM_000492.4(CFTR):c.274-1G>C	rs121908792
NM_000492.4(CFTR):c.274-2A>G	rs397508426
NM_000492.4(CFTR):c.274G>A (p.Glu92Lys)	rs121908751
NM_000492.4(CFTR):c.274G>T (p.Glu92Ter)	rs121908751
NM_000492.4(CFTR):c.2763_2764dup (p.Val922fs)	rs397508431
NM_000492.4(CFTR):c.2819_2823del (p.Thr940fs)
NM_000492.4(CFTR):c.2825del (p.Ile942fs)	rs397508441
NM_000492.4(CFTR):c.2896del (p.Thr966fs)	rs397508451
NM_000492.4(CFTR):c.2932A>T (p.Lys978Ter)	rs193922514
NM_000492.4(CFTR):c.2989-1G>A	rs397508470
NM_000492.4(CFTR):c.2989-2A>G	rs193922515
NM_000492.4(CFTR):c.2989-2A>T	rs193922515
NM_000492.4(CFTR):c.2993del (p.Leu998fs)	rs1057516415
NM_000492.4(CFTR):c.3022del (p.Val1008fs)	rs397508482
NM_000492.4(CFTR):c.3067_3072del (p.Ile1023_Val1024del)	rs121908767
NM_000492.4(CFTR):c.3103C>T (p.Gln1035Ter)	rs397508496
NM_000492.4(CFTR):c.3140-16T>A
NM_000492.4(CFTR):c.3140-1G>A	rs397508506
NM_000492.4(CFTR):c.3160C>G (p.His1054Asp)	rs397508510
NM_000492.4(CFTR):c.3181G>C (p.Gly1061Arg)	rs142394380
NM_000492.4(CFTR):c.325_327delinsG (p.Tyr109fs)	rs121908798
NM_000492.4(CFTR):c.328G>C (p.Asp110His)	rs113993958
NM_000492.4(CFTR):c.3293G>A (p.Trp1098Ter)	rs397508532
NM_000492.4(CFTR):c.3299A>C (p.Gln1100Pro)	rs397508535
NM_000492.4(CFTR):c.3353C>T (p.Ser1118Phe)	rs146521846
NM_000492.4(CFTR):c.3368-2A>G	rs755416052
NM_000492.4(CFTR):c.3368-2A>T	rs755416052
NM_000492.4(CFTR):c.3469-1304C>G
NM_000492.4(CFTR):c.3469-2A>G	rs397508570
NM_000492.4(CFTR):c.3492dup (p.Lys1165Ter)	rs387906379
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.350G>T (p.Arg117Leu)	rs78655421
NM_000492.4(CFTR):c.3528del (p.Lys1177fs)	rs78984783
NM_000492.4(CFTR):c.3691del (p.Ser1231fs)	rs77035409
NM_000492.4(CFTR):c.3700A>G (p.Ile1234Val)	rs75389940
NM_000492.4(CFTR):c.3717+40A>G	rs397508595
NM_000492.4(CFTR):c.3718-3T>G	rs397508596
NM_000492.4(CFTR):c.3741_3745dup (p.Gly1249fs)	rs2116166806
NM_000492.4(CFTR):c.3761T>G (p.Leu1254Ter)	rs397508604
NM_000492.4(CFTR):c.3764C>A (p.Ser1255Ter)	rs76649725
NM_000492.4(CFTR):c.3773dup (p.Leu1258fs)	rs121908789
NM_000492.4(CFTR):c.3871C>T (p.Gln1291Ter)	rs397508620
NM_000492.4(CFTR):c.3874-1G>A	rs397508624
NM_000492.4(CFTR):c.3883_3886del (p.Ile1295fs)	rs387906373
NM_000492.4(CFTR):c.3889dup (p.Ser1297fs)	rs121908808
NM_000492.4(CFTR):c.38C>T (p.Ser13Phe)	rs397508635
NM_000492.4(CFTR):c.3904A>T (p.Lys1302Ter)
NM_000492.4(CFTR):c.3908del (p.Asn1303fs)	rs397508637
NM_000492.4(CFTR):c.3937C>T (p.Gln1313Ter)	rs121909026
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.40A>T (p.Lys14Ter)	rs397508673
NM_000492.4(CFTR):c.4136+1G>A	rs1562928997
NM_000492.4(CFTR):c.4139del (p.Thr1380fs)	rs397508680
NM_000492.4(CFTR):c.413_415dup (p.Leu138dup)	rs397508686
NM_000492.4(CFTR):c.416A>G (p.His139Arg)	rs76371115
NM_000492.4(CFTR):c.416A>T (p.His139Leu)	rs76371115
NM_000492.4(CFTR):c.4197_4198del (p.Leu1399_Cys1400insTer)	rs397508693
NM_000492.4(CFTR):c.4234C>T (p.Gln1412Ter)	rs397508702
NM_000492.4(CFTR):c.4251del (p.Glu1418fs)	rs397508706
NM_000492.4(CFTR):c.4300_4301dup (p.Ser1435fs)	rs397508709
NM_000492.4(CFTR):c.43del (p.Leu15fs)	rs397508715
NM_000492.4(CFTR):c.44T>C (p.Leu15Pro)	rs1562876459
NM_000492.4(CFTR):c.454A>G (p.Met152Val)	rs397508721
NM_000492.4(CFTR):c.489+2T>C	rs397508732
NM_000492.4(CFTR):c.4C>T (p.Gln2Ter)	rs397508740
NM_000492.4(CFTR):c.531del (p.Ile177fs)	rs121908771
NM_000492.4(CFTR):c.54-1G>A
NM_000492.4(CFTR):c.580-1G>T	rs121908793
NM_000492.4(CFTR):c.601del (p.Val201fs)	rs397508767
NM_000492.4(CFTR):c.658C>T (p.Gln220Ter)	rs397508778
NM_000492.4(CFTR):c.708del (p.Gln237fs)	rs1299250440
NM_000492.4(CFTR):c.743+1G>A	rs397508791
NM_000492.4(CFTR):c.743+1G>C	rs397508791
NM_000492.4(CFTR):c.769G>T (p.Glu257Ter)
NM_000492.4(CFTR):c.777del (p.Leu259_Val260insTer)
NM_000492.4(CFTR):c.79G>T (p.Gly27Ter)	rs397508796
NM_000492.4(CFTR):c.803del (p.Asn268fs)	rs121908772
NM_000492.4(CFTR):c.828C>A (p.Cys276Ter)	rs397508799
NM_000492.4(CFTR):c.850dup (p.Met284fs)	rs786204693
NM_000492.4(CFTR):c.861_865del (p.Asn287fs)	rs397508805
NM_000492.4(CFTR):c.865A>T (p.Arg289Ter)	rs1057516619
NM_000492.4(CFTR):c.929TCT[2] (p.Phe312del)	rs121908768
NM_000492.4(CFTR):c.948del (p.Phe316fs)	rs75528968
NM_000492.4(CFTR):c.987del (p.Gly330fs)	rs397508824
NM_000542.5(SFTPB):c.361delinsGAA (p.Pro121fs)	rs35328240
NM_001089.3(ABCA3):c.4545C>G (p.Tyr1515Ter)	rs2093650935
NM_001317778.2(SFTPC):c.218T>C (p.Ile73Thr)	rs121917834
NM_001317778.2(SFTPC):c.548G>A (p.Cys183Tyr)	rs1827914094
NM_001451.3(FOXF1):c.1138T>A (p.Ter380Arg)
NM_001451.3(FOXF1):c.668C>A (p.Ser223Ter)	rs1393788111
NM_015909.4(NBAS):c.4255del (p.Ser1419fs)
NM_015909.4(NBAS):c.5262del (p.Phe1754fs)	rs1669613513
NM_022081.6(HPS4):c.1132C>T (p.Gln378Ter)	rs369053765
NM_022081.6(HPS4):c.148C>T (p.Gln50Ter)	rs372020804
NM_022081.6(HPS4):c.1546C>T (p.Gln516Ter)
NM_022081.6(HPS4):c.45G>A (p.Trp15Ter)
NM_022081.6(HPS4):c.47del (p.Asn16fs)

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