List of variants reported as likely risk allele for pulmonary fibrosis by Garcia Pulmonary Genetics Research Laboratory, Columbia University Irving Medical Center

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 108

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HGVS	dbSNP	gnomAD frequency
NM_001317778.2(SFTPC):c.176A>G (p.His59Arg)	rs201567623	0.00010
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.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
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.1451C>T (p.Pro484Leu)	rs786205700
NM_001283009.2(RTEL1):c.1940C>T (p.Pro647Leu)	rs1177091623
NM_001283009.2(RTEL1):c.1960C>A (p.Pro654Thr)
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.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.563dup (p.Glu189fs)	rs878853260
NM_002582.4(PARN):c.751del (p.Arg251fs)
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.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.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.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.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.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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