ClinVar Miner

List of variants reported as benign for lung disorder by Illumina Laboratory Services, Illumina

Included ClinVar conditions (132):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 236
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000388.4(CASR):c.*574C>G rs6438718 0.96802
NM_006129.4(BMP1):c.-170A>G rs111596355 0.79635
NM_001038.6(SCNN1A):c.1987A>G (p.Thr663Ala) rs2228576 0.75229
NM_000336.3(SCNN1B):c.279T>C (p.Pro93=) rs238547 0.66128
NM_001038.6(SCNN1A):c.-93A>G rs10849447 0.66126
NM_000542.5(SFTPB):c.392C>T (p.Thr131Ile) rs1130866 0.57811
NM_000388.4(CASR):c.*1198T>C rs10190 0.54750
NM_000195.5(HPS1):c.*706C>G rs3830020 0.48408
NM_000195.5(HPS1):c.*982T>C rs1739 0.45933
NM_000195.5(HPS1):c.*955A>G rs1737 0.45932
NM_022081.6(HPS4):c.*1962C>T rs5761533 0.44728
NM_000195.5(HPS1):c.*324T>C rs1061123 0.44036
NM_000195.5(HPS1):c.*272C>T rs1061115 0.43400
NM_000195.5(HPS1):c.*452G>A rs701801 0.39309
NM_198843.3(SFTPB):c.-32A>C rs2077079 0.39035
NM_000542.5(SFTPB):c.196-8C>A rs3024798 0.36098
NM_001317778.2(SFTPC):c.*123G>A rs7592 0.35835
NM_000195.5(HPS1):c.*1167G>A rs1061437 0.35147
NM_000195.5(HPS1):c.*1217T>C rs3830025 0.34581
NM_000195.5(HPS1):c.*1215C>T rs3830024 0.34580
NM_001317778.2(SFTPC):c.436-26C>G rs2070687 0.28233
NM_000195.5(HPS1):c.-51C>A rs1804689 0.27683
NM_000388.4(CASR):c.*1015A>G rs9740 0.27327
NM_001317778.2(SFTPC):c.*174G>A rs1139547 0.26088
NM_000195.5(HPS1):c.636C>T (p.Leu212=) rs1801287 0.25851
NM_001317778.2(SFTPC):c.539G>A (p.Ser180Asn) rs1124 0.25849
NM_000195.5(HPS1):c.1599-15A>G rs2296435 0.21496
NM_198253.3(TERT):c.915G>A (p.Ala305=) rs2736098 0.21206
NM_000195.5(HPS1):c.1397+7G>C rs2296432 0.20947
NM_000195.5(HPS1):c.1397+8G>T rs2296433 0.20935
NM_001317778.2(SFTPC):c.413C>A (p.Thr138Asn) rs4715 0.20729
NM_198253.3(TERT):c.*99C>T rs2853690 0.20149
NM_001038.6(SCNN1A):c.1000G>A (p.Ala334Thr) rs11542844 0.17402
NM_000388.4(CASR):c.*1093C>T rs1802757 0.17297
NM_001089.3(ABCA3):c.1755C>G (p.Pro585=) rs323043 0.14339
NM_001317778.2(SFTPC):c.*173C>T rs1126931 0.14333
NM_001089.3(ABCA3):c.1059C>T (p.Phe353=) rs13332514 0.11601
NM_000388.4(CASR):c.2956G>T (p.Ala986Ser) rs1801725 0.10682
NM_001089.2(ABCA3):c.-711C>G rs45583636 0.10530
NM_001089.3(ABCA3):c.-561C>A rs45456893 0.10465
NM_000336.3(SCNN1B):c.879C>T (p.Phe293=) rs250563 0.10382
NM_000195.5(HPS1):c.1808A>G (p.Gln603Arg) rs2296436 0.09989
NM_198253.3(TERT):c.3039C>T (p.His1013=) rs33954691 0.08834
NM_000388.4(CASR):c.2968A>G (p.Arg990Gly) rs1042636 0.08688
NM_001089.3(ABCA3):c.-494C>T rs4146825 0.08190
NM_001089.3(ABCA3):c.-169G>A rs323049 0.08133
NM_000542.5(SFTPB):c.*857C>T rs3024828 0.07628
NM_000542.5(SFTPB):c.843C>T (p.Asp281=) rs3024810 0.07523
NM_000388.4(CASR):c.*1235A>G rs34042920 0.06757
NM_003018.3(SFTPC):c.-134G>C rs28438700 0.06596
NM_001317778.2(SFTPC):c.201+14G>A rs8192327 0.05091
NM_000195.5(HPS1):c.297C>T (p.Thr99=) rs11539873 0.04930
NM_000195.5(HPS1):c.*694C>T rs7075480 0.04558
NM_000195.5(HPS1):c.987+13T>C rs12571249 0.04438
NM_000195.5(HPS1):c.*473G>A rs3830019 0.04437
NM_000336.3(SCNN1B):c.1325G>T (p.Gly442Val) rs1799980 0.03941
NM_001089.3(ABCA3):c.450G>A (p.Val150=) rs74002800 0.03711
NM_000195.5(HPS1):c.11T>C (p.Val4Ala) rs58548334 0.03653
NM_001038.6(SCNN1A):c.-55+5G>C rs13306617 0.03104
NM_022081.6(HPS4):c.*1250C>T rs7291576 0.02974
NM_001038.6(SCNN1A):c.1853G>T (p.Cys618Phe) rs3741913 0.02955
NM_000542.5(SFTPB):c.48G>A (p.Thr16=) rs3024793 0.02497
NM_000336.3(SCNN1B):c.1467-14G>A rs34618783 0.02274
NM_198253.3(TERT):c.835G>A (p.Ala279Thr) rs61748181 0.02258
NM_001089.3(ABCA3):c.2514-8C>T rs45502600 0.02214
NM_198253.3(TERT):c.2031C>T (p.Gly677=) rs33956095 0.02136
NM_001089.3(ABCA3):c.447+11C>T rs117031141 0.01978
NM_001089.3(ABCA3):c.-539+9C>A rs45501400 0.01933
NM_001038.6(SCNN1A):c.540G>T (p.Leu180=) rs55859427 0.01886
NM_198253.3(TERT):c.3324G>A (p.Pro1108=) rs35033501 0.01868
NM_001038.6(SCNN1A):c.*633G>T rs62618735 0.01803
NM_198253.3(TERT):c.1950+10C>T rs33948291 0.01758
NM_001089.3(ABCA3):c.-29C>G rs17135880 0.01730
NM_001089.3(ABCA3):c.-27+10T>A rs28517480 0.01729
NM_001089.3(ABCA3):c.-671T>A rs45451291 0.01662
NM_001089.3(ABCA3):c.681C>T (p.Ala227=) rs45480502 0.01639
NM_000195.5(HPS1):c.1767G>A (p.Ala589=) rs79218830 0.01605
NM_001038.6(SCNN1A):c.978C>T (p.Asn326=) rs61731141 0.01509
NM_000388.4(CASR):c.1333A>G (p.Thr445Ala) rs12493789 0.01436
NM_001089.3(ABCA3):c.448-14C>G rs62040683 0.01376
NM_000195.5(HPS1):c.159G>A (p.Pro53=) rs78504928 0.01348
NM_000195.5(HPS1):c.-105-9C>T rs2296429 0.01268
NM_198253.3(TERT):c.*63C>T rs5031049 0.01135
NM_001317778.2(SFTPC):c.*36A>G rs75518353 0.01088
NM_000195.5(HPS1):c.*460C>T rs114794063 0.01003
NM_001038.6(SCNN1A):c.99C>T (p.Pro33=) rs13306619 0.00986
NM_000336.3(SCNN1B):c.1162C>T (p.Arg388Cys) rs61729788 0.00962
NM_001089.3(ABCA3):c.990+14C>T rs185179294 0.00913
NM_000542.5(SFTPB):c.*1189A>C rs114238614 0.00906
NM_000195.5(HPS1):c.255+9A>G rs78927693 0.00885
NM_022081.6(HPS4):c.*2269A>G rs147989849 0.00883
NM_000542.5(SFTPB):c.*1847C>T rs115696450 0.00866
NM_022081.6(HPS4):c.1061C>G (p.Ser354Cys) rs116769827 0.00865
NM_001038.6(SCNN1A):c.*296C>T rs55981728 0.00844
NM_198253.3(TERT):c.1659C>T (p.Val553=) rs35809415 0.00838
NM_001038.6(SCNN1A):c.*914A>G rs62619209 0.00770
NM_022081.6(HPS4):c.-554C>T rs115916720 0.00769
NM_001089.3(ABCA3):c.4165-8G>A rs138769732 0.00766
NM_198253.3(TERT):c.2097C>T (p.Ala699=) rs33963617 0.00739
NM_001038.6(SCNN1A):c.*70T>C rs72657538 0.00731
NM_001038.6(SCNN1A):c.-48A>G rs150809388 0.00712
NM_003018.3(SFTPC):c.-91C>T rs77253713 0.00704
NM_003018.3(SFTPC):c.-92C>G rs79647630 0.00682
NM_001038.6(SCNN1A):c.-28T>C rs61759919 0.00673
NM_000542.5(SFTPB):c.529G>A (p.Val177Ile) rs34550459 0.00607
NM_000195.5(HPS1):c.1698G>A (p.Ser566=) rs148450315 0.00596
NM_000336.3(SCNN1B):c.282C>T (p.Ala94=) rs139950628 0.00551
NM_198253.3(TERT):c.*153C>T rs114012142 0.00547
NM_000542.5(SFTPB):c.847G>A (p.Ala283Thr) rs36210375 0.00524
NM_000195.5(HPS1):c.*916G>A rs114082441 0.00522
NM_001317778.2(SFTPC):c.18+13G>A rs74515418 0.00511
NM_000336.3(SCNN1B):c.245C>G (p.Ser82Cys) rs35731153 0.00463
NM_000195.5(HPS1):c.27G>C (p.Glu9Asp) rs7914192 0.00426
NM_001089.3(ABCA3):c.1869C>T (p.Val623=) rs145502164 0.00403
NM_001089.3(ABCA3):c.614-9C>T rs45459699 0.00387
NM_001038.6(SCNN1A):c.684+9C>T rs111317117 0.00378
NM_001089.3(ABCA3):c.-254C>T rs45442195 0.00378
NM_001038.6(SCNN1A):c.*920C>T rs72657532 0.00349
NM_000336.3(SCNN1B):c.777-5T>C rs61759915 0.00311
NM_001089.3(ABCA3):c.4420C>T (p.Arg1474Trp) rs146709251 0.00308
NM_001317778.2(SFTPC):c.288C>T (p.Ile96=) rs79866047 0.00294
NM_000195.5(HPS1):c.478C>T (p.Arg160Trp) rs142893758 0.00290
NM_000336.3(SCNN1B):c.1401C>T (p.Ser467=) rs74012901 0.00290
NM_198253.3(TERT):c.1812A>G (p.Ala604=) rs33959226 0.00255
NM_198253.3(TERT):c.1574-7G>A rs34846301 0.00220
NM_022081.6(HPS4):c.*1687A>G rs3752588 0.00207
NM_198253.3(TERT):c.3105C>T (p.Val1035=) rs181612536 0.00207
NM_000195.5(HPS1):c.*1326C>A rs146022441 0.00195
NM_000336.3(SCNN1B):c.1883T>A (p.Leu628Gln) rs72654356 0.00186
NM_198253.3(TERT):c.2517G>A (p.Thr839=) rs140124989 0.00178
NM_000336.3(SCNN1B):c.1545C>T (p.Ile515=) rs61759916 0.00155
NM_000336.3(SCNN1B):c.466C>T (p.Arg156Trp) rs139310448 0.00132
NM_000388.4(CASR):c.1775A>G (p.Asn592Ser) rs117375173 0.00128
NM_000195.5(HPS1):c.557C>T (p.Ala186Val) rs1801286 0.00125
NM_001317778.2(SFTPC):c.228G>C (p.Pro76=) rs75413490 0.00124
NM_198253.3(TERT):c.534C>T (p.Leu178=) rs370420108 0.00124
NM_000336.3(SCNN1B):c.1887C>T (p.Asp629=) rs61759917 0.00123
NM_001038.6(SCNN1A):c.-55+2T>C rs772498945 0.00122
NM_001038.6(SCNN1A):c.*113C>T rs62620999 0.00121
NM_001038.6(SCNN1A):c.-54-14C>T rs61758858 0.00091
NM_001038.6(SCNN1A):c.1935C>T (p.Ala645=) rs370406973 0.00083
NM_198253.3(TERT):c.1849C>T (p.Leu617=) rs140951453 0.00083
NM_022081.6(HPS4):c.*1387T>A rs3752590 0.00082
NM_001038.6(SCNN1A):c.*467C>A rs140681881 0.00081
NM_001038.6(SCNN1A):c.1484C>T (p.Ser495Leu) rs148749888 0.00078
NM_000336.3(SCNN1B):c.1782G>A (p.Thr594=) rs13306628 0.00063
NM_000336.3(SCNN1B):c.1270+14C>T rs141909058 0.00051
NM_000336.3(SCNN1B):c.1706C>T (p.Ala569Val) rs140927806 0.00051
NM_198253.3(TERT):c.2106G>A (p.Pro702=) rs151055240 0.00050
NM_198253.3(TERT):c.2130+10G>A rs373879259 0.00048
NM_000336.3(SCNN1B):c.1346+8C>T rs200714599 0.00046
NM_001038.6(SCNN1A):c.126G>A (p.Thr42=) rs138995556 0.00036
NM_001038.6(SCNN1A):c.840C>T (p.Phe280=) rs139335335 0.00036
NM_198253.3(TERT):c.2582+11C>T rs180675821 0.00036
NM_001038.6(SCNN1A):c.876-13C>T rs201235216 0.00033
NM_198253.3(TERT):c.2991G>A (p.Val997=) rs376266401 0.00030
NM_001038.6(SCNN1A):c.1216C>A (p.Leu406Ile) rs149484264 0.00029
NM_198253.3(TERT):c.2520G>A (p.Leu840=) rs144310369 0.00029
NM_001317778.2(SFTPC):c.*12T>A rs200469074 0.00027
NM_001089.3(ABCA3):c.4085C>T (p.Ala1362Val) rs145251229 0.00026
NM_000336.3(SCNN1B):c.1686A>G (p.Leu562=) rs541449814 0.00023
NM_001038.6(SCNN1A):c.1485G>T (p.Ser495=) rs3764873 0.00022
NM_001038.6(SCNN1A):c.1559G>C (p.Gly520Ala) rs72657550 0.00022
NM_001038.6(SCNN1A):c.1554-6C>T rs376456435 0.00020
NM_198253.3(TERT):c.2391C>G (p.Ser797=) rs377216965 0.00020
NM_000336.3(SCNN1B):c.1221A>G (p.Pro407=) rs2303156 0.00019
NM_001038.6(SCNN1A):c.*509T>G rs150966071 0.00019
NM_001038.6(SCNN1A):c.1497+6G>C rs144275086 0.00019
NM_001038.6(SCNN1A):c.1520C>T (p.Ser507Leu) rs148959452 0.00019
NM_000336.3(SCNN1B):c.1694G>A (p.Arg565Gln) rs13306627 0.00018
NM_198253.3(TERT):c.604G>A (p.Ala202Thr) rs121918661 0.00018
NM_000336.3(SCNN1B):c.1257C>T (p.Asp419=) rs2303155 0.00016
NM_000336.3(SCNN1B):c.1790G>A (p.Arg597His) rs140945152 0.00016
NM_000336.3(SCNN1B):c.1757C>T (p.Thr586Ile) rs147926991 0.00014
NM_198253.3(TERT):c.645C>T (p.Gly215=) rs768426236 0.00014
NM_198253.3(TERT):c.2383-15C>T rs574645600 0.00013
NM_001317778.2(SFTPC):c.552C>T (p.Gly184=) rs529959941 0.00012
NM_000336.3(SCNN1B):c.1376T>C (p.Met459Thr) rs201369319 0.00011
NM_000542.5(SFTPB):c.708C>T (p.Arg236=) rs367661082 0.00011
NM_001317778.2(SFTPC):c.157G>A (p.Ala53Thr) rs200039720 0.00011
NM_001317778.2(SFTPC):c.18+12G>A rs202194863 0.00011
NM_001038.6(SCNN1A):c.1686G>A (p.Ser562=) rs199526819 0.00010
NM_001038.6(SCNN1A):c.746G>A (p.Arg249Lys) rs142409152 0.00009
NM_198253.3(TERT):c.1392C>T (p.Phe464=) rs186596886 0.00008
NM_000336.3(SCNN1B):c.1514G>A (p.Arg505His) rs138784278 0.00007
NM_198253.3(TERT):c.887A>C (p.His296Pro) rs778187343 0.00007
NM_000336.3(SCNN1B):c.1005C>T (p.Tyr335=) rs13306633 0.00006
NM_000336.3(SCNN1B):c.6C>T (p.His2=) rs564570566 0.00006
NM_000336.3(SCNN1B):c.918C>T (p.Tyr306=) rs374264520 0.00006
NM_001038.6(SCNN1A):c.-69C>T rs545108113 0.00006
NM_001089.3(ABCA3):c.*312G>T rs79337915 0.00006
NM_198253.3(TERT):c.2654+10G>A rs375473823 0.00006
NM_001038.6(SCNN1A):c.1299C>T (p.Tyr433=) rs375712066 0.00005
NM_000336.3(SCNN1B):c.1900G>C (p.Asp634His) rs776613953 0.00004
NM_001317778.2(SFTPC):c.303C>T (p.Leu101=) rs370825102 0.00004
NM_198253.3(TERT):c.2263G>A (p.Val755Ile) rs576633619 0.00004
NM_198253.3(TERT):c.3150G>C (p.Lys1050Asn) rs373400596 0.00004
NM_001038.6(SCNN1A):c.1771C>T (p.Arg591Ter) rs771949339 0.00003
NM_198253.3(TERT):c.834C>A (p.Pro278=) rs375423906 0.00003
NM_022081.6(HPS4):c.2079C>T (p.Ser693=) rs138189133 0.00002
NM_198253.3(TERT):c.2886C>T (p.Arg962=) rs542440625 0.00002
NM_000336.3(SCNN1B):c.109G>A (p.Gly37Ser) rs137852706 0.00001
NM_000336.3(SCNN1B):c.1419C>T (p.His473=) rs193211556 0.00001
NM_001038.6(SCNN1A):c.826G>T (p.Gly276Cys) rs759933475 0.00001
NM_198253.3(TERT):c.2781A>G (p.Leu927=) rs370292237 0.00001
NM_000195.5(HPS1):c.1472C>G (p.Pro491Arg) rs2296434
NM_000195.5(HPS1):c.1527C>G (p.Leu509=) rs17109850
NM_000195.5(HPS1):c.847G>T (p.Gly283Trp) rs11592273
NM_000336.3(SCNN1B):c.1560G>A (p.Ser520=) rs146440372
NM_000336.3(SCNN1B):c.1560G>C (p.Ser520=) rs146440372
NM_000388.4(CASR):c.*188dup rs33974189
NM_000388.4(CASR):c.*60A>T rs4677948
NM_000388.4(CASR):c.78C>G (p.Ala26=) rs77852524
NM_000542.5(SFTPB):c.815G>A (p.Arg272His) rs3024809
NM_001038.6(SCNN1A):c.*1012TGTT[1] rs796798913
NM_001038.6(SCNN1A):c.1073A>G (p.Glu358Gly) rs569195112
NM_001038.6(SCNN1A):c.147C>T (p.Ile49=) rs200770604
NM_001038.6(SCNN1A):c.1717G>A (p.Val573Ile) rs59142484
NM_001038.6(SCNN1A):c.2004G>T (p.Gly668=) rs539360032
NM_001089.3(ABCA3):c.-236C>G rs323048
NM_001317778.2(SFTPC):c.115G>T (p.Val39Leu) rs183533911
NM_001317778.2(SFTPC):c.228G>A (p.Pro76=) rs75413490
NM_001317778.2(SFTPC):c.351T>G (p.Pro117=) rs35457216
NM_001317778.2(SFTPC):c.68G>A (p.Arg23Gln) rs75902455
NM_001451.3(FOXF1):c.*1175_*1176del rs397854726
NM_001451.3(FOXF1):c.*1176del rs397854726
NM_001451.3(FOXF1):c.*472dup rs56130003
NM_006129.4(BMP1):c.-277delG rs148697295
NM_022081.6(HPS4):c.1060T>A (p.Ser354Thr) rs114685298
NM_022081.6(HPS4):c.741T>A (p.Pro247=) rs35126034
NM_177438.3(DICER1):c.*1448dup rs35463377
NM_177438.3(DICER1):c.*1716TG[1] rs35500699
NM_177438.3(DICER1):c.*2379dup rs140355178
NM_177438.3(DICER1):c.4206+7_4206+8dup rs1555368535
NM_198253.3(TERT):c.1269C>T (p.Ala423=) rs190411812
NM_198253.3(TERT):c.663G>T (p.Ala221=) rs35837567

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