List of variants in gene TERT studied for Dyskeratosis congenita, autosomal dominant 1

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_198253.3(TERT):c.915G>A (p.Ala305=)	rs2736098	0.21206
NM_198253.3(TERT):c.3039C>T (p.His1013=)	rs33954691	0.08834
NM_198253.3(TERT):c.2097C>T (p.Ala699=)	rs33963617	0.00739
NM_198253.3(TERT):c.2178G>A (p.Thr726=)	rs199422288	0.00011
NM_198253.3(TERT):c.2177C>T (p.Thr726Met)	rs149566858	0.00006
NM_198253.3(TERT):c.2110C>T (p.Pro704Ser)	rs199422297	0.00004
NM_198253.3(TERT):c.1378_1380del (p.Gln460del)	rs199422292
NM_198253.3(TERT):c.2029G>T (p.Gly677Cys)	rs199422296
NM_198253.3(TERT):c.2045G>A (p.Gly682Asp)	rs199422295
NM_198253.3(TERT):c.2162C>G (p.Pro721Arg)	rs199422299
NM_198253.3(TERT):c.2706G>C (p.Lys902Asn)	rs121918665
NM_198253.3(TERT):c.2935C>T (p.Arg979Trp)	rs199422305
TERT:c.1710G>Y (p.Lys570Asn)	rs1554041299

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