ClinVar Miner

List of variants studied for pulmonary fibrosis by Garcia Pulmonary Genetics Research Laboratory, Columbia University Irving Medical Center

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 124
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HGVS dbSNP gnomAD frequency
NM_001317778.2(SFTPC):c.176A>G (p.His59Arg) rs201567623 0.00010
NM_001283009.2(RTEL1):c.2956C>T (p.Arg986Ter) rs373740199 0.00009
NM_002582.4(PARN):c.1749_1750del (p.Glu585fs) rs1194089098 0.00006
NM_001283009.2(RTEL1):c.2063C>G (p.Ser688Cys) rs773265745 0.00004
NM_002582.4(PARN):c.1330C>T (p.Arg444Cys) rs765981944 0.00004
NM_002582.4(PARN):c.19A>C (p.Asn7His) rs1371498176 0.00004
NM_198253.3(TERT):c.2110C>T (p.Pro704Ser) rs199422297 0.00004
NM_198253.3(TERT):c.3329C>T (p.Thr1110Met) rs199422306 0.00004
NM_001283009.2(RTEL1):c.2920C>T (p.Arg974Ter) rs398123017 0.00003
NR_001566.3(TERC):n.37A>G rs199422261 0.00003
NM_002582.4(PARN):c.665C>T (p.Pro222Leu) rs770353163 0.00002
NM_001283009.2(RTEL1):c.1720C>T (p.Arg574Trp) rs1601164606 0.00001
NM_001283009.2(RTEL1):c.1877A>G (p.Lys626Arg) rs1018679403 0.00001
NM_198253.3(TERT):c.2011C>T (p.Arg671Trp) rs1060503011 0.00001
NM_198253.3(TERT):c.2080G>A (p.Val694Met) rs121918662 0.00001
NM_198253.3(TERT):c.2105C>T (p.Pro702Leu) rs754809046 0.00001
NM_198253.3(TERT):c.2225G>A (p.Arg742His) rs727503468 0.00001
NM_198253.3(TERT):c.2594G>A (p.Arg865His) rs121918666 0.00001
NM_198253.3(TERT):c.2812C>T (p.Arg938Trp) rs1422814635 0.00001
NR_001566.3(TERC):n.202T>C rs1277188982 0.00001
NC_000003.12:g.169764627C>A
NC_000003.12:g.169764628C>G
NC_000003.12:g.169764818G>A rs2108183041
NC_000003.12:g.169764827G>C
NC_000003.12:g.169764879C>G rs1777962078
NC_000003.12:g.169764995G>T rs1577384356
NM_001098668.4(SFTPA2):c.692G>T (p.Gly231Val) rs121917737
NM_001099274.3(TINF2):c.838A>C (p.Lys280Gln)
NM_001128931.2(NAF1):c.1132dup (p.Thr378fs)
NM_001283009.2(RTEL1):c.1135+1G>A rs1555903332
NM_001283009.2(RTEL1):c.1451C>T (p.Pro484Leu) rs786205700
NM_001283009.2(RTEL1):c.1596-2A>G
NM_001283009.2(RTEL1):c.1940C>T (p.Pro647Leu) rs1177091623
NM_001283009.2(RTEL1):c.1960C>A (p.Pro654Thr)
NM_001283009.2(RTEL1):c.2005C>T (p.Gln669Ter) rs1555811762
NM_001283009.2(RTEL1):c.2206_2208del (p.Asp736del)
NM_001283009.2(RTEL1):c.3275T>C (p.Leu1092Pro)
NM_001283009.2(RTEL1):c.329_332del (p.Ile110fs) rs2146150691
NM_001283009.2(RTEL1):c.3371A>C (p.His1124Pro) rs786205702
NM_001283009.2(RTEL1):c.602del (p.Gly201fs) rs863223336
NM_001283009.2(RTEL1):c.699+1G>T
NM_001283009.2(RTEL1):c.704G>A (p.Arg235His) rs549397879
NM_001317778.2(SFTPC):c.121_147dup (p.Val49_Ile50insValValValValLeuIleValValVal)
NM_001317778.2(SFTPC):c.218T>C (p.Ile73Thr) rs121917834
NM_001317778.2(SFTPC):c.304G>A (p.Val102Met)
NM_001317778.2(SFTPC):c.83G>A (p.Cys28Tyr)
NM_001363.5(DKC1):c.851G>A (p.Arg284Gln)
NM_001363.5(DKC1):c.974A>G (p.Asp325Gly)
NM_002582.4(PARN):c.1081+1G>A
NM_002582.4(PARN):c.1318+1G>A
NM_002582.4(PARN):c.1355T>C (p.Phe452Ser)
NM_002582.4(PARN):c.1405+1G>T rs1288345334
NM_002582.4(PARN):c.246-2A>G rs751381953
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.751del (p.Arg251fs)
NM_002582.4(PARN):c.781C>T (p.Gln261Ter)
NM_002582.4(PARN):c.874del (p.Asp292fs)
NM_020242.3(KIF15):c.1580_1581del (p.Leu527fs)
NM_020242.3(KIF15):c.164C>T (p.Ser55Phe)
NM_020242.3(KIF15):c.247-1_248del
NM_020242.3(KIF15):c.3158_3159del (p.Leu1052_Ser1053insTer)
NM_020242.3(KIF15):c.3421-2A>G
NM_020242.3(KIF15):c.362-1G>A
NM_020242.3(KIF15):c.409C>T (p.Pro137Ser)
NM_020242.3(KIF15):c.539_540del (p.Ser180fs)
NM_020242.3(KIF15):c.673G>A (p.Ala225Thr)
NM_020242.3(KIF15):c.94C>T (p.Arg32Ter)
NM_020242.3(KIF15):c.95G>A (p.Arg32Gln)
NM_138386.3(NAF1):c.1123C>T (p.Arg375Ter)
NM_138386.3(NAF1):c.420GTC[1] (p.Ser145del)
NM_138386.3(NAF1):c.634+1G>T
NM_138386.3(NAF1):c.701G>C (p.Arg234Pro)
NM_198253.3(TERT):c.1048_1049del (p.Leu350fs) rs1554042899
NM_198253.3(TERT):c.127G>A (p.Asp43Asn) rs1579599236
NM_198253.3(TERT):c.1364A>T (p.His455Leu) rs781329984
NM_198253.3(TERT):c.1397G>C (p.Arg466Pro)
NM_198253.3(TERT):c.1456C>T (p.Arg486Cys) rs199422293
NM_198253.3(TERT):c.1601A>G (p.His534Arg)
NM_198253.3(TERT):c.1603C>T (p.Arg535Cys) rs1750103128
NM_198253.3(TERT):c.1710G>T (p.Lys570Asn)
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.1895C>T (p.Pro632Leu) rs1749925286
NM_198253.3(TERT):c.193C>A (p.Pro65Thr) rs544215765
NM_198253.3(TERT):c.2033C>A (p.Ala678Asp)
NM_198253.3(TERT):c.2081T>A (p.Val694Glu) rs1026167666
NM_198253.3(TERT):c.2131-2A>G
NM_198253.3(TERT):c.2240del (p.Val747fs) rs199422300
NM_198253.3(TERT):c.228C>A (p.Cys76Ter)
NM_198253.3(TERT):c.230T>C (p.Leu77Pro) rs1751271544
NM_198253.3(TERT):c.2377G>A (p.Glu793Lys) rs1043358053
NM_198253.3(TERT):c.2398G>A (p.Glu800Lys)
NM_198253.3(TERT):c.2426_2427del (p.Phe809fs)
NM_198253.3(TERT):c.2431_2433delinsTGT (p.Arg811Cys)
NM_198253.3(TERT):c.2473T>C (p.Tyr825His)
NM_198253.3(TERT):c.2521C>T (p.Leu841Phe)
NM_198253.3(TERT):c.2581G>A (p.Gly861Arg) rs1554039721
NM_198253.3(TERT):c.2583-2A>T
NM_198253.3(TERT):c.2599G>A (p.Val867Met) rs201159197
NM_198253.3(TERT):c.2621C>G (p.Thr874Arg)
NM_198253.3(TERT):c.2647T>A (p.Phe883Ile)
NM_198253.3(TERT):c.2775C>A (p.His925Gln) rs34528119
NM_198253.3(TERT):c.2869A>C (p.Ser957Arg)
NM_198253.3(TERT):c.2912G>A (p.Arg971His) rs1748153358
NM_198253.3(TERT):c.2935C>T (p.Arg979Trp) rs199422305
NM_198253.3(TERT):c.293C>A (p.Ala98Asp)
NM_198253.3(TERT):c.2991del (p.Cys998fs) rs1554038539
NM_198253.3(TERT):c.307_308delinsGG (p.Leu103Gly) rs1751266537
NM_198253.3(TERT):c.3187G>A (p.Gly1063Ser) rs938938578
NM_198253.3(TERT):c.3202G>A (p.Glu1068Lys)
NM_198253.3(TERT):c.3268_3274del (p.Val1090fs)
NM_198253.3(TERT):c.329G>C (p.Gly110Ala) rs1751262771
NM_198253.3(TERT):c.336dup (p.Glu113fs) rs1060502990
NM_198253.3(TERT):c.377C>A (p.Thr126Lys)
NM_198253.3(TERT):c.416T>G (p.Leu139Arg) rs1579598547
NM_198253.3(TERT):c.430G>A (p.Val144Met) rs199422291
NM_198253.3(TERT):c.446T>A (p.Leu149Gln)
NM_198253.3(TERT):c.83T>G (p.Val28Gly) rs1561215157
NM_198253.3(TERT):c.97C>T (p.Pro33Ser) rs199422289
NM_198253.3(TERT):c.999CTC[1] (p.Ser335del) rs1170942980
NR_001566.3(TERC):n.116C>T rs199422272
NR_001566.3(TERC):n.313_319dup

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