ClinVar Miner

List of variants studied for pulmonary fibrosis by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (22):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 245
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_198253.3(TERT):c.915G>A (p.Ala305=) rs2736098 0.21206
NR_001566.3(TERC):n.58G>A rs113487931 0.01733
NM_002458.3(MUC5B):c.3834C>T (p.Thr1278=) rs55913363 0.01285
NM_017612.5(ZCCHC8):c.1345+5G>A rs116783031 0.01008
NR_001566.3(TERC):n.228G>A rs141686314 0.00478
NM_002458.3(MUC5B):c.16859C>T (p.Ala5620Val) rs113495521 0.00367
NM_198253.3(TERT):c.1574-7G>A rs34846301 0.00220
NM_001283009.2(RTEL1):c.2600C>T (p.Pro867Leu) rs139083375 0.00065
NM_001283009.2(RTEL1):c.3251C>T (p.Thr1084Ile) rs142457144 0.00055
NM_001283009.2(RTEL1):c.1205T>C (p.Val402Ala) rs137956338 0.00046
NM_001283009.2(RTEL1):c.1189C>G (p.Gln397Glu) rs150285674 0.00043
NM_001283009.2(RTEL1):c.245C>T (p.Pro82Leu) rs143461704 0.00042
NM_198253.3(TERT):c.1932G>A (p.Thr644=) rs148582238 0.00031
NM_001283009.2(RTEL1):c.1018G>A (p.Gly340Ser) rs145845927 0.00030
NM_001283009.2(RTEL1):c.2965C>T (p.Arg989Trp) rs139221232 0.00030
NM_002458.3(MUC5B):c.3926C>T (p.Thr1309Met) rs200226020 0.00030
NM_001283009.2(RTEL1):c.2470C>T (p.Pro824Ser) rs138188555 0.00027
NM_001283009.2(RTEL1):c.538+3A>G rs201706459 0.00024
NM_198253.3(TERT):c.1931C>T (p.Thr644Met) rs201927653 0.00023
NM_001283009.2(RTEL1):c.3422C>T (p.Pro1141Leu) rs201682415 0.00022
NM_198253.3(TERT):c.3257G>A (p.Arg1086His) rs200288187 0.00021
NM_001283009.2(RTEL1):c.3463G>A (p.Val1155Met) rs149145821 0.00020
NM_002582.4(PARN):c.1493G>A (p.Ser498Asn) rs200471459 0.00020
NM_001283009.2(RTEL1):c.334G>A (p.Ala112Thr) rs151214675 0.00019
NM_002458.3(MUC5B):c.2725G>A (p.Asp909Asn) rs80298911 0.00017
NM_001283009.2(RTEL1):c.2612C>T (p.Pro871Leu) rs144002969 0.00016
NM_001283009.2(RTEL1):c.2921G>A (p.Arg974Gln) rs369716125 0.00016
NM_001283009.2(RTEL1):c.860C>T (p.Thr287Ile) rs561054389 0.00015
NM_001283009.2(RTEL1):c.2534C>T (p.Ala845Val) rs371852881 0.00013
NM_198253.3(TERT):c.2383-15C>T rs574645600 0.00013
NM_001283009.2(RTEL1):c.2987C>A (p.Pro996His) rs373210484 0.00011
NM_002582.4(PARN):c.1613G>C (p.Arg538Pro) rs377199187 0.00011
NM_198253.3(TERT):c.2079C>T (p.Phe693=) rs371759577 0.00011
NM_198253.3(TERT):c.2573G>A (p.Arg858Gln) rs144779807 0.00011
NM_001283009.2(RTEL1):c.718A>G (p.Ile240Val) rs141578937 0.00010
NM_002582.4(PARN):c.1046G>A (p.Arg349Gln) rs201053607 0.00010
NM_001283009.2(RTEL1):c.2935C>T (p.Arg979Trp) rs144034326 0.00009
NM_001283009.2(RTEL1):c.2956C>T (p.Arg986Ter) rs373740199 0.00009
NM_198253.3(TERT):c.3268G>A (p.Val1090Met) rs121918664 0.00009
NM_198253.3(TERT):c.779G>A (p.Gly260Asp) rs148798048 0.00009
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His) rs201540674 0.00008
NM_001283009.2(RTEL1):c.2877C>A (p.His959Gln) rs373996455 0.00008
NM_001283009.2(RTEL1):c.1722+3G>A rs200599544 0.00007
NM_001283009.2(RTEL1):c.3589G>A (p.Gly1197Ser) rs545606632 0.00007
NM_002582.4(PARN):c.1006-11G>A rs746114163 0.00007
NM_198253.3(TERT):c.887A>C (p.His296Pro) rs778187343 0.00007
NM_001283009.2(RTEL1):c.2903G>C (p.Cys968Ser) rs375503989 0.00006
NM_001283009.2(RTEL1):c.3508C>T (p.Arg1170Trp) rs773894104 0.00006
NM_015450.3(POT1):c.1416T>G (p.Ser472Arg) rs146643991 0.00006
NM_015450.3(POT1):c.1841A>G (p.Asn614Ser) rs202024401 0.00006
NM_198253.3(TERT):c.159G>C (p.Gln53His) rs1060503006 0.00006
NM_198253.3(TERT):c.2177C>T (p.Thr726Met) rs149566858 0.00006
NM_001283009.2(RTEL1):c.2275C>G (p.Pro759Ala) rs775121139 0.00005
NM_002582.4(PARN):c.168G>C (p.Lys56Asn) rs375964590 0.00005
NM_002582.4(PARN):c.407A>T (p.Gln136Leu) rs374762200 0.00005
NM_198253.3(TERT):c.1108C>T (p.Pro370Ser) rs143148040 0.00005
NM_198253.3(TERT):c.2287-5G>A rs561426406 0.00005
NM_001283009.2(RTEL1):c.1004C>G (p.Pro335Arg) rs750272281 0.00004
NM_001283009.2(RTEL1):c.2063C>G (p.Ser688Cys) rs773265745 0.00004
NM_001283009.2(RTEL1):c.2579C>T (p.Ser860Phe) rs772872062 0.00004
NM_001283009.2(RTEL1):c.3362G>A (p.Arg1121His) rs765060195 0.00004
NM_001283009.2(RTEL1):c.3546G>A (p.Ser1182=) rs774018403 0.00004
NM_015450.3(POT1):c.1178A>G (p.His393Arg) rs746416077 0.00004
NM_015450.3(POT1):c.1186G>A (p.Asp396Asn) rs148956533 0.00004
NM_198253.3(TERT):c.1760T>C (p.Ile587Thr) rs148882731 0.00004
NM_198253.3(TERT):c.1949G>A (p.Arg650Lys) rs190125817 0.00004
NM_198253.3(TERT):c.2263G>A (p.Val755Ile) rs576633619 0.00004
NM_198253.3(TERT):c.2576G>A (p.Arg859Gln) rs755183437 0.00004
NM_198253.3(TERT):c.3329C>T (p.Thr1110Met) rs199422306 0.00004
NM_001283009.2(RTEL1):c.1963C>T (p.Arg655Trp) rs764349649 0.00003
NM_001283009.2(RTEL1):c.2306G>A (p.Arg769His) rs369014080 0.00003
NM_001283009.2(RTEL1):c.2561A>C (p.His854Pro) rs747542418 0.00003
NM_001283009.2(RTEL1):c.2920C>T (p.Arg974Ter) rs398123017 0.00003
NM_001283009.2(RTEL1):c.396-26C>T rs80224512 0.00003
NM_001283009.2(RTEL1):c.709G>A (p.Ala237Thr) rs1023502136 0.00003
NM_002582.4(PARN):c.581G>A (p.Ser194Asn) rs374622245 0.00003
NM_015450.3(POT1):c.1490C>A (p.Thr497Lys) rs879897044 0.00003
NM_015450.3(POT1):c.977T>C (p.Val326Ala) rs75932146 0.00003
NM_198253.3(TERT):c.1142G>C (p.Arg381Pro) rs777343359 0.00003
NM_198253.3(TERT):c.1393G>C (p.Val465Leu) rs758110675 0.00003
NM_198253.3(TERT):c.150G>A (p.Leu50=) rs886044153 0.00003
NM_198253.3(TERT):c.2012G>A (p.Arg671Gln) rs774381540 0.00003
NM_198253.3(TERT):c.2190C>T (p.Ala730=) rs138128892 0.00003
NM_198253.3(TERT):c.859G>A (p.Gly287Ser) rs746095609 0.00003
NM_198253.3(TERT):c.863C>T (p.Ala288Val) rs774657340 0.00003
NM_198253.3(TERT):c.968C>G (p.Pro323Arg) rs139342764 0.00003
NR_001566.3(TERC):n.37A>G rs199422261 0.00003
NM_001283009.2(RTEL1):c.1266+3A>G rs889856101 0.00002
NM_001283009.2(RTEL1):c.1393C>T (p.His465Tyr) rs142928306 0.00002
NM_001283009.2(RTEL1):c.2414-14G>A rs770111225 0.00002
NM_001283009.2(RTEL1):c.3712C>T (p.Leu1238Phe) rs765763485 0.00002
NM_001283009.2(RTEL1):c.970C>T (p.Arg324Cys) rs771452777 0.00002
NM_002582.4(PARN):c.1458C>G (p.Ser486Arg) rs375177493 0.00002
NM_002582.4(PARN):c.1768G>C (p.Glu590Gln) rs975097908 0.00002
NM_002582.4(PARN):c.710G>A (p.Arg237Gln) rs376992177 0.00002
NM_015450.3(POT1):c.1369+5G>A rs1297963302 0.00002
NM_018648.4(NOP10):c.31G>A (p.Gly11Arg) rs370894572 0.00002
NM_198253.3(TERT):c.1130G>A (p.Arg377His) rs756954938 0.00002
NM_198253.3(TERT):c.2744G>A (p.Gly915Asp) rs202033269 0.00002
NM_001283009.2(RTEL1):c.1037+1G>T rs895722334 0.00001
NM_001283009.2(RTEL1):c.1266+11C>T rs2090575166 0.00001
NM_001283009.2(RTEL1):c.1282G>A (p.Asp428Asn) rs758640195 0.00001
NM_001283009.2(RTEL1):c.2614C>T (p.Arg872Ter) rs961593162 0.00001
NM_001283009.2(RTEL1):c.2866G>C (p.Val956Leu) rs942820151 0.00001
NM_001283009.2(RTEL1):c.3227G>A (p.Cys1076Tyr) rs781481182 0.00001
NM_001283009.2(RTEL1):c.3329T>A (p.Phe1110Tyr) rs148621466 0.00001
NM_001283009.2(RTEL1):c.3672C>G (p.Asp1224Glu) rs779295227 0.00001
NM_001283009.2(RTEL1):c.3790C>T (p.Arg1264Cys) rs761902346 0.00001
NM_001283009.2(RTEL1):c.454A>G (p.Lys152Glu) rs1234907654 0.00001
NM_002582.4(PARN):c.1835A>G (p.Lys612Arg) rs1361443338 0.00001
NM_002582.4(PARN):c.853A>G (p.Ile285Val) rs376031010 0.00001
NM_015450.3(POT1):c.1082G>A (p.Arg361His) rs778352298 0.00001
NM_015450.3(POT1):c.1106A>G (p.Tyr369Cys) rs763905854 0.00001
NM_015450.3(POT1):c.1213G>A (p.Ala405Thr) rs753851042 0.00001
NM_015450.3(POT1):c.1363A>G (p.Ile455Val) rs776965979 0.00001
NM_015450.3(POT1):c.1505+3A>G rs1227070716 0.00001
NM_015450.3(POT1):c.1707A>C (p.Pro569=) rs1218962425 0.00001
NM_018648.4(NOP10):c.75A>T (p.Gln25His) rs368082745 0.00001
NM_198253.3(TERT):c.1954G>A (p.Glu652Lys) rs1228165704 0.00001
NM_198253.3(TERT):c.2005C>T (p.Arg669Trp) rs372140951 0.00001
NM_198253.3(TERT):c.2105C>T (p.Pro702Leu) rs754809046 0.00001
NM_198253.3(TERT):c.2702G>A (p.Arg901Gln) rs772974254 0.00001
NM_198253.3(TERT):c.3303G>A (p.Thr1101=) rs551516320 0.00001
NM_198253.3(TERT):c.375C>T (p.Asn125=) rs1751256209 0.00001
NM_198253.3(TERT):c.508G>A (p.Val170Met) rs387907248 0.00001
NM_198253.3(TERT):c.895G>A (p.Val299Met) rs756624928 0.00001
NR_001566.3(TERC):n.35C>T rs199422260 0.00001
NM_001283009.2(RTEL1):c.1030C>T (p.Pro344Ser) rs147789792
NM_001283009.2(RTEL1):c.1037+9C>T
NM_001283009.2(RTEL1):c.1192-2A>G rs2145411185
NM_001283009.2(RTEL1):c.1292A>T (p.His431Leu)
NM_001283009.2(RTEL1):c.1304C>A (p.Ala435Asp)
NM_001283009.2(RTEL1):c.1333G>A (p.Ala445Thr)
NM_001283009.2(RTEL1):c.1396G>A (p.Glu466Lys) rs1219409480
NM_001283009.2(RTEL1):c.1508C>T (p.Pro503Leu)
NM_001283009.2(RTEL1):c.1636+5G>A
NM_001283009.2(RTEL1):c.1653_1666delinsTGA (p.Val552fs)
NM_001283009.2(RTEL1):c.178C>T (p.Arg60Ter)
NM_001283009.2(RTEL1):c.1798G>A (p.Glu600Lys)
NM_001283009.2(RTEL1):c.1843A>G (p.Thr615Ala)
NM_001283009.2(RTEL1):c.1955T>C (p.Met652Thr) rs148080505
NM_001283009.2(RTEL1):c.1993G>A (p.Glu665Lys)
NM_001283009.2(RTEL1):c.2110_2112delinsAAT (p.Asp704Asn)
NM_001283009.2(RTEL1):c.2152G>C (p.Ala718Pro)
NM_001283009.2(RTEL1):c.2162G>A (p.Arg721Lys)
NM_001283009.2(RTEL1):c.2233G>A (p.Val745Met) rs398123049
NM_001283009.2(RTEL1):c.2265+1G>T rs2145431062
NM_001283009.2(RTEL1):c.2284dup (p.Arg762fs)
NM_001283009.2(RTEL1):c.2401C>T (p.Gln801Ter)
NM_001283009.2(RTEL1):c.2456A>G (p.Glu819Gly)
NM_001283009.2(RTEL1):c.2488A>T (p.Arg830Trp)
NM_001283009.2(RTEL1):c.2544_2548delinsCGGCA (p.Glu850Lys)
NM_001283009.2(RTEL1):c.2581C>T (p.Leu861Phe)
NM_001283009.2(RTEL1):c.2749del (p.Gln917fs)
NM_001283009.2(RTEL1):c.2797G>T (p.Ala933Ser) rs781430438
NM_001283009.2(RTEL1):c.2801G>C (p.Cys934Ser) rs1263651818
NM_001283009.2(RTEL1):c.2802T>A (p.Cys934Ter)
NM_001283009.2(RTEL1):c.2812del (p.Leu938fs) rs1449687529
NM_001283009.2(RTEL1):c.2827C>G (p.Pro943Ala)
NM_001283009.2(RTEL1):c.2851+4C>T rs751450627
NM_001283009.2(RTEL1):c.2854T>C (p.Phe952Leu) rs1601184120
NM_001283009.2(RTEL1):c.2857T>C (p.Tyr953His)
NM_001283009.2(RTEL1):c.2859C>A (p.Tyr953Ter)
NM_001283009.2(RTEL1):c.2892T>G (p.Phe964Leu) rs1470145133
NM_001283009.2(RTEL1):c.2943G>C (p.Glu981Asp)
NM_001283009.2(RTEL1):c.2980C>G (p.Leu994Val) rs2145449535
NM_001283009.2(RTEL1):c.2981T>G (p.Leu994Arg)
NM_001283009.2(RTEL1):c.2983G>A (p.Asp995Asn) rs202020298
NM_001283009.2(RTEL1):c.2985C>A (p.Asp995Glu) rs762474261
NM_001283009.2(RTEL1):c.2995A>G (p.Arg999Gly)
NM_001283009.2(RTEL1):c.3005C>A (p.Pro1002Gln)
NM_001283009.2(RTEL1):c.3005C>T (p.Pro1002Leu)
NM_001283009.2(RTEL1):c.3023T>G (p.Val1008Gly)
NM_001283009.2(RTEL1):c.310_311dup (p.Asp105fs)
NM_001283009.2(RTEL1):c.3110-1G>A
NM_001283009.2(RTEL1):c.3110-2A>C rs377461417
NM_001283009.2(RTEL1):c.3253G>T (p.Ala1085Ser)
NM_001283009.2(RTEL1):c.3259A>T (p.Lys1087Ter)
NM_001283009.2(RTEL1):c.3320C>G (p.Pro1107Arg) rs115264605
NM_001283009.2(RTEL1):c.3425G>T (p.Gly1142Val)
NM_001283009.2(RTEL1):c.3448G>A (p.Glu1150Lys)
NM_001283009.2(RTEL1):c.3528G>C (p.Lys1176Asn) rs367598119
NM_001283009.2(RTEL1):c.3548C>T (p.Ser1183Phe)
NM_001283009.2(RTEL1):c.354A>C (p.Gln118His)
NM_001283009.2(RTEL1):c.3559C>T (p.Gln1187Ter) rs776525427
NM_001283009.2(RTEL1):c.3651G>A (p.Trp1217Ter)
NM_001283009.2(RTEL1):c.3689C>T (p.Ala1230Val)
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.379C>T (p.Arg127Trp)
NM_001283009.2(RTEL1):c.3805T>C (p.Trp1269Arg)
NM_001283009.2(RTEL1):c.3822+13C>T
NM_001283009.2(RTEL1):c.3823-11T>C
NM_001283009.2(RTEL1):c.3824C>G (p.Ala1275Gly) rs771296244
NM_001283009.2(RTEL1):c.424G>A (p.Glu142Lys)
NM_001283009.2(RTEL1):c.614+13A>G
NM_001283009.2(RTEL1):c.614+1G>C
NM_001283009.2(RTEL1):c.649C>T (p.Gln217Ter) rs780546933
NM_001283009.2(RTEL1):c.821C>G (p.Ser274Ter)
NM_002458.3(MUC5B):c.11465C>A (p.Ala3822Asp)
NM_002458.3(MUC5B):c.13164G>T (p.Thr4388=) rs370908099
NM_002458.3(MUC5B):c.16861G>T (p.Glu5621Ter)
NM_002458.3(MUC5B):c.7898G>A (p.Trp2633Ter)
NM_002582.4(PARN):c.1172T>C (p.Ile391Thr)
NM_002582.4(PARN):c.1297C>G (p.Leu433Val) rs201782700
NM_002582.4(PARN):c.1319-2_1319del
NM_002582.4(PARN):c.1378G>A (p.Asp460Asn) rs747006604
NM_002582.4(PARN):c.1667A>G (p.Asn556Ser)
NM_002582.4(PARN):c.1684A>G (p.Ser562Gly)
NM_002582.4(PARN):c.1864+12A>T
NM_002582.4(PARN):c.323G>T (p.Cys108Phe)
NM_002582.4(PARN):c.659+4_659+7del rs759131762
NM_002582.4(PARN):c.734A>G (p.Asp245Gly)
NM_002582.4(PARN):c.787G>C (p.Glu263Gln)
NM_002582.4(PARN):c.867G>A (p.Met289Ile)
NM_002582.4(PARN):c.910C>G (p.Leu304Val)
NM_002582.4(PARN):c.918G>A (p.Ala306=) rs2151767064
NM_015450.3(POT1):c.10-2A>C rs1554434788
NM_015450.3(POT1):c.1219A>G (p.Lys407Glu) rs766397437
NM_015450.3(POT1):c.1270T>C (p.Trp424Arg) rs1584757234
NM_015450.3(POT1):c.1634C>T (p.Thr545Ile) rs2116414961
NM_015450.3(POT1):c.991_1006+7del
NM_018648.4(NOP10):c.-10A>G
NM_018648.4(NOP10):c.25G>A (p.Glu9Lys)
NM_198253.3(TERT):c.1070C>G (p.Ala357Gly) rs1751166833
NM_198253.3(TERT):c.110G>A (p.Arg37Gln) rs1239502548
NM_198253.3(TERT):c.1110C>G (p.Pro370=) rs1579597009
NM_198253.3(TERT):c.1201G>T (p.Ala401Ser) rs370887827
NM_198253.3(TERT):c.124G>C (p.Gly42Arg) rs1751293669
NM_198253.3(TERT):c.1285G>A (p.Glu429Lys) rs1561213553
NM_198253.3(TERT):c.1304T>A (p.Val435Glu) rs1561213530
NM_198253.3(TERT):c.1327A>C (p.Thr443Pro) rs1030586939
NM_198253.3(TERT):c.1552G>A (p.Ala518Thr)
NM_198253.3(TERT):c.2006G>A (p.Arg669Gln) rs1749858434
NM_198253.3(TERT):c.2072G>A (p.Arg691His) rs202123213
NM_198253.3(TERT):c.2221G>A (p.Val741Met) rs150819225
NM_198253.3(TERT):c.2971-14C>T rs2126573743
NM_198253.3(TERT):c.336dup (p.Glu113fs) rs1060502990
NM_198253.3(TERT):c.440A>G (p.Asp147Gly)
NM_198253.3(TERT):c.559C>A (p.Pro187Thr) rs1751234467
NM_198253.3(TERT):c.567C>A (p.His189Gln) rs747935528
NM_198253.3(TERT):c.727G>A (p.Ala243Thr)
NM_198253.3(TERT):c.764C>A (p.Ser255Tyr) rs1751207450
NM_198253.3(TERT):c.847A>C (p.Thr283Pro) rs1295657479
NM_198253.3(TERT):c.902G>A (p.Arg301His) rs1268051204

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