List of variants in gene TERT reported as likely risk allele for Pulmonary fibrosis

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 46

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HGVS	dbSNP	gnomAD frequency
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_198253.3(TERT):c.1603C>T (p.Arg535Cys)	rs1750103128	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.2377G>A (p.Glu793Lys)	rs1043358053	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
NM_198253.3(TERT):c.1048_1049del (p.Leu350fs)	rs1554042899
NM_198253.3(TERT):c.1397G>C (p.Arg466Pro)	rs2478410245
NM_198253.3(TERT):c.1456C>T (p.Arg486Cys)	rs199422293
NM_198253.3(TERT):c.1601A>G (p.His534Arg)	rs2478306957
NM_198253.3(TERT):c.1710G>T (p.Lys570Asn)	rs1554041299
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.2033C>A (p.Ala678Asp)	rs1749852602
NM_198253.3(TERT):c.2081T>A (p.Val694Glu)	rs1026167666
NM_198253.3(TERT):c.2240del (p.Val747fs)	rs199422300
NM_198253.3(TERT):c.2398G>A (p.Glu800Lys)	rs2478200793
NM_198253.3(TERT):c.2431_2433delinsTGT (p.Arg811Cys)	rs2478200217
NM_198253.3(TERT):c.2473T>C (p.Tyr825His)	rs1748797889
NM_198253.3(TERT):c.2521C>T (p.Leu841Phe)	rs2478180846
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)	rs2478165841
NM_198253.3(TERT):c.2647T>A (p.Phe883Ile)	rs1403852124
NM_198253.3(TERT):c.2775C>A (p.His925Gln)	rs34528119
NM_198253.3(TERT):c.2869A>C (p.Ser957Arg)	rs1748158034
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)	rs2478430098
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)	rs1747569912
NM_198253.3(TERT):c.3268_3274del (p.Val1090fs)	rs2478073438
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)	rs2478428691
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)	rs2478427484
NM_198253.3(TERT):c.999CTC[1] (p.Ser335del)	rs1170942980

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