List of variants in gene TINF2 studied for Dyskeratosis congenita, autosomal dominant 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_001099274.3(TINF2):c.706C>T (p.Pro236Ser)	rs199422321	0.00077
NM_001099274.3(TINF2):c.734C>A (p.Ser245Tyr)	rs142777869	0.00034
NM_001099274.3(TINF2):c.838A>G (p.Lys280Glu)	rs121918543
NM_001099274.3(TINF2):c.838A>T (p.Lys280Ter)	rs121918543
NM_001099274.3(TINF2):c.844C>A (p.Arg282Ser)	rs121918545
NM_001099274.3(TINF2):c.844C>T (p.Arg282Cys)	rs121918545
NM_001099274.3(TINF2):c.847C>G (p.Pro283Ala)	rs199422311
NM_001099274.3(TINF2):c.847C>T (p.Pro283Ser)	rs199422311
NM_001099274.3(TINF2):c.848C>A (p.Pro283His)	rs199422313
NM_001099274.3(TINF2):c.849dup (p.Thr284fs)	rs199422315
NM_001099274.3(TINF2):c.850A>G (p.Thr284Ala)	rs199422314
NM_001099274.3(TINF2):c.860T>C (p.Leu287Pro)	rs199422316
NM_001099274.3(TINF2):c.865_866delinsAG (p.Pro289Ser)	rs199422318
NM_001099274.3(TINF2):c.871A>G (p.Arg291Gly)	rs199422319
NM_001099274.3(TINF2):c.892del (p.Gln298fs)	rs199422320

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