List of variants in gene TERT reported as likely benign for Dyskeratosis congenita

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: 31

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HGVS	dbSNP	gnomAD frequency
NM_198253.3(TERT):c.1812A>G (p.Ala604=)	rs33959226	0.00255
NM_198253.3(TERT):c.969G>A (p.Pro323=)	rs148549782	0.00224
NM_198253.3(TERT):c.1574-7G>A	rs34846301	0.00220
NM_198253.3(TERT):c.534C>T (p.Leu178=)	rs370420108	0.00124
NM_198253.3(TERT):c.2769G>A (p.Pro923=)	rs200174990	0.00118
NM_198253.3(TERT):c.572G>C (p.Ser191Thr)	rs11952056	0.00100
NM_198253.3(TERT):c.1884C>T (p.Asp628=)	rs143992655	0.00088
NM_198253.3(TERT):c.1953C>T (p.Ala651=)	rs201088708	0.00054
NM_198253.3(TERT):c.3351C>T (p.Ala1117=)	rs192377676	0.00052
NM_198253.3(TERT):c.1968G>A (p.Ser656=)	rs368784316	0.00039
NM_198253.3(TERT):c.2991G>A (p.Val997=)	rs376266401	0.00030
NM_198253.3(TERT):c.838G>A (p.Glu280Lys)	rs199701877	0.00018
NM_198253.3(TERT):c.2383-15C>T	rs574645600	0.00013
NM_198253.3(TERT):c.3186C>T (p.Ala1062=)	rs201067706	0.00011
NM_198253.3(TERT):c.1656C>T (p.Tyr552=)	rs143789839	0.00010
NM_198253.3(TERT):c.1983G>A (p.Leu661=)	rs375454175	0.00010
NM_198253.3(TERT):c.1974G>A (p.Val658=)	rs778496417	0.00009
NM_198253.3(TERT):c.2001C>T (p.Tyr667=)	rs758494245	0.00009
NM_198253.3(TERT):c.2019C>T (p.Pro673=)	rs762941707	0.00009
NM_198253.3(TERT):c.3363G>A (p.Pro1121=)	rs750020682	0.00009
NM_198253.3(TERT):c.2139G>A (p.Val713=)	rs775722062	0.00008
NM_198253.3(TERT):c.2793C>T (p.Cys931=)	rs764925909	0.00004
NM_198253.3(TERT):c.1422C>T (p.Pro474=)	rs139133620	0.00002
NM_198253.3(TERT):c.672C>T (p.Arg224=)	rs996032219	0.00002
NM_198253.3(TERT):c.1890G>T (p.Leu630=)	rs1749926290	0.00001
NM_198253.3(TERT):c.1958G>A (p.Arg653His)	rs890242322	0.00001
NM_198253.3(TERT):c.2250C>T (p.Ala750=)	rs941567959	0.00001
NM_198253.3(TERT):c.2355G>A (p.Pro785=)	rs545260840	0.00001
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del)	rs377639087
NM_198253.3(TERT):c.2590C>T (p.Leu864=)	rs777358007
NM_198253.3(TERT):c.702G>A (p.Leu234=)	rs754359147

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