ClinVar Miner

List of variants reported as pathogenic for pulmonary fibrosis

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 296
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HGVS dbSNP gnomAD frequency
NR_001566.3(TERC):n.58G>A rs113487931 0.01733
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) rs34094720 0.00316
NM_198253.3(TERT):c.604G>A (p.Ala202Thr) rs121918661 0.00018
NM_001283009.2(RTEL1):c.2956C>T (p.Arg986Ter) rs373740199 0.00009
NM_002582.4(PARN):c.272A>G (p.Tyr91Cys) rs201765587 0.00009
NM_198253.3(TERT):c.2320C>T (p.Arg774Ter) rs770066110 0.00009
NM_198253.3(TERT):c.3268G>A (p.Val1090Met) rs121918664 0.00009
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His) rs201540674 0.00008
NM_002582.4(PARN):c.1749_1750del (p.Glu585fs) rs1194089098 0.00006
NM_001283009.2(RTEL1):c.2957G>A (p.Arg986Gln) rs146221660 0.00004
NM_002582.4(PARN):c.1330C>T (p.Arg444Cys) rs765981944 0.00004
NM_001283009.2(RTEL1):c.2920C>T (p.Arg974Ter) rs398123017 0.00003
NM_001098668.4(SFTPA2):c.532G>A (p.Val178Met) rs371035540 0.00001
NM_001283009.2(RTEL1):c.1476G>T (p.Met492Ile) rs370343781 0.00001
NM_001283009.2(RTEL1):c.2089C>T (p.Arg697Ter) rs768188490 0.00001
NM_001283009.2(RTEL1):c.2260C>T (p.Arg754Ter) rs377024903 0.00001
NM_001283009.2(RTEL1):c.2614C>T (p.Arg872Ter) rs961593162 0.00001
NM_001283009.2(RTEL1):c.3766C>T (p.Gln1256Ter) rs1385101139 0.00001
NM_001283009.2(RTEL1):c.458_459del (p.Gln153fs) rs773025155 0.00001
NM_002582.4(PARN):c.1262A>G (p.Lys421Arg) rs777090017 0.00001
NM_002582.4(PARN):c.382C>T (p.Arg128Ter) rs1318821563 0.00001
NM_002582.4(PARN):c.657G>A (p.Trp219Ter) rs1363931577 0.00001
NM_002945.5(RPA1):c.680T>C (p.Val227Ala) rs570041689 0.00001
NM_198253.3(TERT):c.2080G>A (p.Val694Met) rs121918662 0.00001
NM_198253.3(TERT):c.2594G>A (p.Arg865His) rs121918666 0.00001
NM_198253.3(TERT):c.508G>A (p.Val170Met) rs387907248 0.00001
NC_000005.10:g.(?_1280152)_(1280344_?)del
NC_000005.10:g.(?_218346)_(1295046_?)del
NC_000005.10:g.(?_218349)_(1297373_?)del
NC_000005.9:g.(?_1253843)_(1297488_?)del
NC_000005.9:g.(?_1256219)_(1264507_?)del
NC_000005.9:g.(?_1266569)_(1297488_?)del
NC_000005.9:g.(?_1279790)_(1280463_?)del
NC_000005.9:g.(?_1282524)_(1297488_?)del
NC_000005.9:g.(?_1282603)_(1283866_?)del
NC_000005.9:g.(?_1287194)_(1297488_?)del
NC_000005.9:g.(?_482643)_(1895829_?)del
NC_000016.9:g.(?_14530574)_(14724045_?)del
NC_000016.9:g.(?_14645858)_(14711527_?)del
NC_000016.9:g.(?_14645858)_(14724045_?)del
NC_000016.9:g.(?_14693741)_(14700403_?)del
NC_000016.9:g.(?_14704491)_(14704676_?)del
NC_000016.9:g.(?_14711427)_(14711527_?)del
NC_000016.9:g.(?_14711427)_(14724045_?)del
NC_000016.9:g.(?_14720953)_(14721203_?)del
NC_000016.9:g.(?_14725823)_(14643928_?)del
NC_000020.10:g.(?_61987307)_(62329916_?)del
NC_000020.10:g.(?_62075992)_(62324656_?)del
NC_000020.10:g.(?_62290746)_(62290867_?)del
NC_000020.10:g.(?_62290746)_(62312082_?)del
NC_000020.10:g.(?_62290756)_(62324646_?)del
NC_000020.10:g.(?_62298812)_(62298916_?)del
NC_000020.10:g.(?_62298812)_(62303984_?)del
NC_000020.10:g.(?_62303889)_(62305466_?)del
NC_000020.10:g.(?_62309478)_(62324656_?)del
NC_000020.10:g.(?_62309478)_(62329916_?)del
NC_000020.10:g.(?_62309488)_(62312082_?)del
NC_000020.10:g.(?_62316856)_(62327211_?)del
NM_001098668.4(SFTPA2):c.512A>T (p.Asn171Ile) rs2132046635
NM_001098668.4(SFTPA2):c.593T>C (p.Phe198Ser) rs121917738
NM_001098668.4(SFTPA2):c.692G>T (p.Gly231Val) rs121917737
NM_001098668.4(SFTPA2):c.697T>A (p.Trp233Arg) rs2132045183
NM_001283009.2(RTEL1):c.1001_1014del (p.Leu334fs) rs1601133145
NM_001283009.2(RTEL1):c.1103C>A (p.Ser368Ter)
NM_001283009.2(RTEL1):c.1111C>T (p.Gln371Ter)
NM_001283009.2(RTEL1):c.1120C>T (p.Gln374Ter)
NM_001283009.2(RTEL1):c.1135+1G>A rs1555903332
NM_001283009.2(RTEL1):c.1194del (p.Ile398fs) rs2145411193
NM_001283009.2(RTEL1):c.1216del (p.Glu406fs) rs2145411302
NM_001283009.2(RTEL1):c.1244dup (p.Ala417fs) rs2145411399
NM_001283009.2(RTEL1):c.1263T>A (p.Tyr421Ter) rs2145411479
NM_001283009.2(RTEL1):c.1345C>T (p.Arg449Ter)
NM_001283009.2(RTEL1):c.1367G>A (p.Trp456Ter)
NM_001283009.2(RTEL1):c.1419dup (p.Ser474fs)
NM_001283009.2(RTEL1):c.1451C>T (p.Pro484Leu) rs786205700
NM_001283009.2(RTEL1):c.1458del (p.Ser487fs) rs2090629495
NM_001283009.2(RTEL1):c.1482-1G>A rs863225129
NM_001283009.2(RTEL1):c.1546G>C (p.Val516Leu) rs748223349
NM_001283009.2(RTEL1):c.1596-2A>G
NM_001283009.2(RTEL1):c.1603G>T (p.Glu535Ter) rs1367858373
NM_001283009.2(RTEL1):c.1606G>T (p.Glu536Ter) rs2090639016
NM_001283009.2(RTEL1):c.1618T>G (p.Ser540Ala) rs863225130
NM_001283009.2(RTEL1):c.1682_1686del (p.Pro561fs)
NM_001283009.2(RTEL1):c.1699G>T (p.Glu567Ter)
NM_001283009.2(RTEL1):c.1778_1781dup (p.Ser594fs)
NM_001283009.2(RTEL1):c.178C>T (p.Arg60Ter)
NM_001283009.2(RTEL1):c.1890dup (p.Leu631fs) rs2145427564
NM_001283009.2(RTEL1):c.190C>T (p.Arg64Ter) rs368311594
NM_001283009.2(RTEL1):c.1910del (p.Asn637fs)
NM_001283009.2(RTEL1):c.1963dup (p.Arg655fs) rs1555811742
NM_001283009.2(RTEL1):c.2005C>T (p.Gln669Ter) rs1555811762
NM_001283009.2(RTEL1):c.2038C>T (p.Gln680Ter) rs2090682958
NM_001283009.2(RTEL1):c.2045G>A (p.Trp682Ter)
NM_001283009.2(RTEL1):c.2046G>A (p.Trp682Ter)
NM_001283009.2(RTEL1):c.2080del (p.Ala694fs)
NM_001283009.2(RTEL1):c.2098del (p.Arg700fs) rs2090684427
NM_001283009.2(RTEL1):c.2197_2198del (p.Arg733fs)
NM_001283009.2(RTEL1):c.2200del (p.Val734fs)
NM_001283009.2(RTEL1):c.2219_2227del (p.His740_Ile742del) rs863225053
NM_001283009.2(RTEL1):c.2223del (p.Ile742fs) rs2090699166
NM_001283009.2(RTEL1):c.2227C>T (p.Arg743Ter) rs2145430878
NM_001283009.2(RTEL1):c.2239C>T (p.Gln747Ter) rs2145430921
NM_001283009.2(RTEL1):c.2270del (p.Pro757fs) rs2145431569
NM_001283009.2(RTEL1):c.2287dup (p.Ala763fs)
NM_001283009.2(RTEL1):c.2295del (p.Ser767fs)
NM_001283009.2(RTEL1):c.2387del (p.Val796fs) rs2145432198
NM_001283009.2(RTEL1):c.2401C>T (p.Gln801Ter)
NM_001283009.2(RTEL1):c.2413+1G>C rs776744306
NM_001283009.2(RTEL1):c.2461G>T (p.Glu821Ter) rs2090722556
NM_001283009.2(RTEL1):c.2468del (p.Glu823fs)
NM_001283009.2(RTEL1):c.2485C>T (p.Gln829Ter) rs1278121916
NM_001283009.2(RTEL1):c.2554C>T (p.Gln852Ter) rs2145434954
NM_001283009.2(RTEL1):c.2575_2576del (p.Leu859fs)
NM_001283009.2(RTEL1):c.2584_2593del (p.Leu862fs) rs2145439154
NM_001283009.2(RTEL1):c.2587_2590del (p.Ser863fs) rs752833281
NM_001283009.2(RTEL1):c.2635del (p.Arg879fs) rs1555812480
NM_001283009.2(RTEL1):c.2653G>T (p.Glu885Ter) rs2090784564
NM_001283009.2(RTEL1):c.2671_2686del (p.Ala891fs) rs2145445706
NM_001283009.2(RTEL1):c.2713C>T (p.Gln905Ter)
NM_001283009.2(RTEL1):c.2725C>T (p.Gln909Ter) rs866637461
NM_001283009.2(RTEL1):c.2749C>T (p.Gln917Ter)
NM_001283009.2(RTEL1):c.2750del (p.Gln917fs)
NM_001283009.2(RTEL1):c.2783_2784del (p.Phe928fs)
NM_001283009.2(RTEL1):c.2802T>A (p.Cys934Ter)
NM_001283009.2(RTEL1):c.2812del (p.Leu938fs) rs1449687529
NM_001283009.2(RTEL1):c.2818del (p.Ala940fs)
NM_001283009.2(RTEL1):c.2821G>T (p.Glu941Ter) rs906116592
NM_001283009.2(RTEL1):c.2850del (p.Gly951fs) rs2090792717
NM_001283009.2(RTEL1):c.2881A>T (p.Lys961Ter) rs1555813144
NM_001283009.2(RTEL1):c.2887C>T (p.Gln963Ter)
NM_001283009.2(RTEL1):c.2924del (p.Gly975fs)
NM_001283009.2(RTEL1):c.2933_2936dup (p.Pro980fs)
NM_001283009.2(RTEL1):c.2940_2956del (p.Glu981fs)
NM_001283009.2(RTEL1):c.2956del (p.Arg986fs) rs1285014916
NM_001283009.2(RTEL1):c.2988del (p.Thr997fs)
NM_001283009.2(RTEL1):c.3043C>T (p.Gln1015Ter) rs777109448
NM_001283009.2(RTEL1):c.3058G>T (p.Glu1020Ter) rs771746222
NM_001283009.2(RTEL1):c.3074_3096del (p.Gly1025fs) rs2145471381
NM_001283009.2(RTEL1):c.3124C>T (p.Gln1042Ter) rs929898540
NM_001283009.2(RTEL1):c.3138del (p.Ser1047fs) rs1555814207
NM_001283009.2(RTEL1):c.3169C>T (p.Gln1057Ter) rs2090929102
NM_001283009.2(RTEL1):c.3289del (p.Ala1097fs) rs2090933372
NM_001283009.2(RTEL1):c.329_332del (p.Ile110fs) rs2146150691
NM_001283009.2(RTEL1):c.3334del (p.Leu1112fs) rs1555814334
NM_001283009.2(RTEL1):c.3371A>C (p.His1124Pro) rs786205702
NM_001283009.2(RTEL1):c.3389dup (p.Thr1131fs) rs2145477500
NM_001283009.2(RTEL1):c.3514G>T (p.Glu1172Ter)
NM_001283009.2(RTEL1):c.3525del (p.Lys1176fs)
NM_001283009.2(RTEL1):c.3553del (p.Arg1186fs) rs1363124795
NM_001283009.2(RTEL1):c.3559_3562del (p.Gln1187fs)
NM_001283009.2(RTEL1):c.3610C>T (p.Gln1204Ter)
NM_001283009.2(RTEL1):c.361C>T (p.Gln121Ter) rs2090027846
NM_001283009.2(RTEL1):c.3672_3673del (p.Ile1225fs) rs2145480213
NM_001283009.2(RTEL1):c.3715_3716del (p.Ala1240fs) rs1363658406
NM_001283009.2(RTEL1):c.3730_3731del (p.Cys1244fs) rs1316931773
NM_001283009.2(RTEL1):c.3775_3776del (p.Ala1259fs) rs2145480909
NM_001283009.2(RTEL1):c.3776_3779del (p.Ala1259fs) rs764058481
NM_001283009.2(RTEL1):c.3787C>T (p.Gln1263Ter) rs2145480992
NM_001283009.2(RTEL1):c.440_443dup (p.Glu149fs) rs2146153920
NM_001283009.2(RTEL1):c.46C>T (p.Gln16Ter) rs2146141455
NM_001283009.2(RTEL1):c.475C>T (p.Gln159Ter) rs2090043175
NM_001283009.2(RTEL1):c.4_46dup (p.Gln16fs) rs2146141304
NM_001283009.2(RTEL1):c.535G>T (p.Glu179Ter) rs1555899932
NM_001283009.2(RTEL1):c.602del (p.Gly201fs) rs863223336
NM_001283009.2(RTEL1):c.61C>T (p.Gln21Ter)
NM_001283009.2(RTEL1):c.649C>T (p.Gln217Ter) rs780546933
NM_001283009.2(RTEL1):c.699+1G>T
NM_001283009.2(RTEL1):c.72C>G (p.Tyr24Ter)
NM_001283009.2(RTEL1):c.836_837del (p.Ile279fs) rs2146197831
NM_001283009.2(RTEL1):c.850G>T (p.Glu284Ter)
NM_001283009.2(RTEL1):c.897del (p.Phe299fs) rs1555901832
NM_001283009.2(RTEL1):c.958+2dup rs869312855
NM_001283009.2(RTEL1):c.984del (p.Ile329fs) rs2146211234
NM_001283009.2(RTEL1):c.9del (p.Lys3_Ile4insTer) rs2146141332
NM_002582.4(PARN):c.1123C>T (p.Gln375Ter) rs1380270401
NM_002582.4(PARN):c.1124_1133del (p.Gln375fs) rs1969578006
NM_002582.4(PARN):c.122_123del (p.Ser41fs)
NM_002582.4(PARN):c.1257del (p.Phe419fs) rs942538351
NM_002582.4(PARN):c.1414C>T (p.Gln472Ter)
NM_002582.4(PARN):c.1624C>T (p.Gln542Ter) rs745696590
NM_002582.4(PARN):c.1645C>T (p.Gln549Ter)
NM_002582.4(PARN):c.177+1del
NM_002582.4(PARN):c.246-2A>G rs751381953
NM_002582.4(PARN):c.417_420del (p.Glu139fs) rs2151797695
NM_002582.4(PARN):c.529C>T (p.Gln177Ter) rs876661305
NM_002582.4(PARN):c.563dup (p.Glu189fs) rs878853260
NM_002582.4(PARN):c.656G>A (p.Trp219Ter)
NM_002582.4(PARN):c.709C>T (p.Arg237Ter) rs760506977
NM_002582.4(PARN):c.713dup (p.Tyr238Ter) rs1971048225
NM_002582.4(PARN):c.714del (p.Arg237_Tyr238insTer)
NM_002582.4(PARN):c.781C>T (p.Gln261Ter)
NM_002582.4(PARN):c.994C>T (p.Gln332Ter)
NM_002945.5(RPA1):c.718G>A (p.Glu240Lys) rs916648829
NM_002945.5(RPA1):c.808A>G (p.Thr270Ala) rs2151286956
NM_015450.3(POT1):c.776T>C (p.Leu259Ser)
NM_017612.5(ZCCHC8):c.557C>T (p.Pro186Leu) rs1317757765
NM_018648.4(NOP10):c.17A>G (p.Tyr6Cys)
NM_138386.3(NAF1):c.1123C>T (p.Arg375Ter)
NM_138386.3(NAF1):c.956_957del (p.Lys319fs)
NM_138386.3(NAF1):c.984dup (p.Ser329fs)
NM_198253.2(TERT):c.[2371G>A;2599G>A]
NM_198253.3(TERT):c.*6_*182del rs199422308
NM_198253.3(TERT):c.1048_1049del (p.Leu350fs) rs1554042899
NM_198253.3(TERT):c.1070del (p.Ala357fs)
NM_198253.3(TERT):c.10_11dup (p.Pro5fs) rs2126693109
NM_198253.3(TERT):c.1122del (p.Thr375fs) rs2126685887
NM_198253.3(TERT):c.1141del (p.Arg381fs)
NM_198253.3(TERT):c.1156_1171del (p.Tyr386fs) rs1751155195
NM_198253.3(TERT):c.1174_1175del (p.Leu392fs)
NM_198253.3(TERT):c.1246C>T (p.Arg416Ter)
NM_198253.3(TERT):c.1314del (p.Glu439fs) rs2126684848
NM_198253.3(TERT):c.131dup (p.Ala45fs)
NM_198253.3(TERT):c.1379del (p.Gln460fs)
NM_198253.3(TERT):c.1424del (p.Pro475fs) rs2126684234
NM_198253.3(TERT):c.1434G>A (p.Trp478Ter) rs1751122711
NM_198253.3(TERT):c.1450G>T (p.Glu484Ter) rs1561213355
NM_198253.3(TERT):c.1453del (p.Arg485fs)
NM_198253.3(TERT):c.1471del (p.Thr491fs)
NM_198253.3(TERT):c.1612G>T (p.Glu538Ter) rs2126649912
NM_198253.3(TERT):c.162C>A (p.Cys54Ter) rs1751289309
NM_198253.3(TERT):c.164T>A (p.Leu55Gln) rs387907247
NM_198253.3(TERT):c.1685_1686del (p.Tyr562fs) rs1579580058
NM_198253.3(TERT):c.16_37del (p.Arg6fs)
NM_198253.3(TERT):c.1712del (p.Asn571fs) rs1750090102
NM_198253.3(TERT):c.1743G>A (p.Trp581Ter) rs1750086002
NM_198253.3(TERT):c.1805C>A (p.Ser602Ter)
NM_198253.3(TERT):c.180G>A (p.Trp60Ter) rs1554043139
NM_198253.3(TERT):c.1831G>T (p.Glu611Ter)
NM_198253.3(TERT):c.1837_1841del (p.Leu616fs)
NM_198253.3(TERT):c.1871_1872dup (p.Pro625fs) rs2126644399
NM_198253.3(TERT):c.1891C>T (p.Arg631Trp) rs1194223999
NM_198253.3(TERT):c.1892G>A (p.Arg631Gln) rs199422294
NM_198253.3(TERT):c.198dup (p.Ala67fs) rs2126691416
NM_198253.3(TERT):c.2053_2055del (p.Asp685del)
NM_198253.3(TERT):c.2098C>T (p.Gln700Ter) rs878855300
NM_198253.3(TERT):c.2146G>A (p.Ala716Thr) rs387907249
NM_198253.3(TERT):c.2147C>T (p.Ala716Val) rs199422298
NM_198253.3(TERT):c.219+1G>A rs199422309
NM_198253.3(TERT):c.2240del (p.Val747fs) rs199422300
NM_198253.3(TERT):c.2315A>G (p.Tyr772Cys) rs121918663
NM_198253.3(TERT):c.2315_2330del (p.Tyr772fs) rs2126617841
NM_198253.3(TERT):c.2323C>T (p.Gln775Ter)
NM_198253.3(TERT):c.2380C>T (p.Gln794Ter)
NM_198253.3(TERT):c.2461_2462del (p.Arg821fs)
NM_198253.3(TERT):c.2461del (p.Arg821fs) rs2126614292
NM_198253.3(TERT):c.247C>T (p.Arg83Ter) rs867642414
NM_198253.3(TERT):c.2540dup (p.Asp848fs) rs1748786633
NM_198253.3(TERT):c.2583-2A>C rs111576740
NM_198253.3(TERT):c.2583-2A>T
NM_198253.3(TERT):c.2599G>A (p.Val867Met) rs201159197
NM_198253.3(TERT):c.2630_2634del (p.Leu877fs)
NM_198253.3(TERT):c.2638G>A (p.Ala880Thr) rs1748613571
NM_198253.3(TERT):c.2704A>T (p.Lys902Ter) rs1748461171
NM_198253.3(TERT):c.2705A>G (p.Lys902Arg) rs387907250
NM_198253.3(TERT):c.2752del (p.Ala918fs)
NM_198253.3(TERT):c.2768C>T (p.Pro923Leu) rs387907251
NM_198253.3(TERT):c.2790G>A (p.Trp930Ter)
NM_198253.3(TERT):c.2808_2815del (p.Thr937fs)
NM_198253.3(TERT):c.2924_2925del (p.Phe975fs)
NM_198253.3(TERT):c.2943del (p.Lys981fs)
NM_198253.3(TERT):c.3073del (p.Val1025fs)
NM_198253.3(TERT):c.3087del (p.Thr1030fs)
NM_198253.3(TERT):c.3110_3111del (p.Ile1036_Ser1037insTer) rs1554038257
NM_198253.3(TERT):c.3211C>T (p.Gln1071Ter) rs1747568641
NM_198253.3(TERT):c.3235del (p.Leu1079fs) rs1270172263
NM_198253.3(TERT):c.329del (p.Gly110fs) rs1554043093
NM_198253.3(TERT):c.336dup (p.Glu113fs) rs1060502990
NM_198253.3(TERT):c.489_493del (p.Pro164fs)
NM_198253.3(TERT):c.505C>T (p.Gln169Ter)
NM_198253.3(TERT):c.579_580delinsTT (p.Arg194Ter) rs1554043041
NM_198253.3(TERT):c.57_58del (p.Glu20fs)
NM_198253.3(TERT):c.598G>T (p.Glu200Ter) rs1322987070
NM_198253.3(TERT):c.613dup (p.His205fs) rs1751227147
NM_198253.3(TERT):c.688C>T (p.Arg230Ter) rs989271195
NM_198253.3(TERT):c.735_745del (p.Glu245fs)
NM_198253.3(TERT):c.757C>T (p.Gln253Ter)
NM_198253.3(TERT):c.767G>A (p.Trp256Ter) rs2126687935
NM_198253.3(TERT):c.809dup (p.Cys271fs)
NM_198253.3(TERT):c.89_98del (p.Arg30fs)
NM_198253.3(TERT):c.923del (p.Pro308fs)
NM_198253.3(TERT):c.923dup (p.Ser309fs) rs1191885727
NM_198253.3(TERT):c.950G>A (p.Trp317Ter)
NM_198253.3(TERT):c.970del (p.Val324fs)
NM_198253.3(TERT):c.996del (p.Tyr333fs) rs2126686445
NR_001566.1(TERC):n.407_408delinsAA rs1553915580
NR_001566.3(TERC):n.107G>T rs1553915617
NR_001566.3(TERC):n.108_111delCTGA rs199422270
NR_001566.3(TERC):n.116C>T rs199422272
NR_001566.3(TERC):n.118_121GCGG[1] rs1553915612
NR_001566.3(TERC):n.143G>A rs199422274
NR_001566.3(TERC):n.204C>G rs199422277
NR_001566.3(TERC):n.212C>G rs2108183105
NR_001566.3(TERC):n.325G>T rs1777959964
NR_001566.3(TERC):n.69_74dup rs1553915621
NR_001566.3(TERC):n.72C>G rs199422265
NR_001566.3(TERC):n.98G>A rs199422268

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