List of variants in gene TINF2 reported as pathogenic for Dyskeratosis congenita, autosomal dominant 3

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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: 7

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HGVS	dbSNP	gnomAD frequency
NM_001099274.3(TINF2):c.805C>T (p.Gln269Ter)	rs387907153
NM_001099274.3(TINF2):c.811C>T (p.Gln271Ter)	rs387907154
NM_001099274.3(TINF2):c.826del (p.Arg276fs)	rs863223324
NM_001099274.3(TINF2):c.838A>G (p.Lys280Glu)	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.845G>A (p.Arg282His)	rs121918544

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