List of variants in gene TERT reported as pathogenic for hematologic disorder

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_198253.3(TERT):c.1234C>T (p.His412Tyr)	rs34094720	0.00316
NM_198253.3(TERT):c.604G>A (p.Ala202Thr)	rs121918661	0.00018
NM_198253.3(TERT):c.3268G>A (p.Val1090Met)	rs121918664	0.00009
NM_198253.3(TERT):c.2080G>A (p.Val694Met)	rs121918662	0.00001
NM_198253.3(TERT):c.2594G>A (p.Arg865His)	rs121918666	0.00001
NM_198253.3(TERT):c.508G>A (p.Val170Met)	rs387907248	0.00001
NM_198253.2(TERT):c.[2371G>A;2599G>A]
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.2053_2055del (p.Asp685del)
NM_198253.3(TERT):c.2146G>A (p.Ala716Thr)	rs387907249
NM_198253.3(TERT):c.2240del (p.Val747fs)	rs199422300
NM_198253.3(TERT):c.2315A>G (p.Tyr772Cys)	rs121918663
NM_198253.3(TERT):c.2583-2A>C	rs111576740
NM_198253.3(TERT):c.2705A>G (p.Lys902Arg)	rs387907250
NM_198253.3(TERT):c.2768C>T (p.Pro923Leu)	rs387907251
NM_198253.3(TERT):c.579_580delinsTT (p.Arg194Ter)	rs1554043041

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