List of variants in gene TELO2 reported as pathogenic for syndrome caused by partial chromosomal deletion

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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: 9

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HGVS	dbSNP	gnomAD frequency
NM_016111.4(TELO2):c.1100G>T (p.Cys367Phe)	rs202020308	0.00016
NM_016111.4(TELO2):c.2296G>A (p.Val766Met)	rs371675497	0.00010
NM_016111.4(TELO2):c.2159A>T (p.Asp720Val)	rs878853271	0.00003
NM_016111.4(TELO2):c.1825C>T (p.Arg609Cys)	rs766665093	0.00001
NM_016111.4(TELO2):c.1826G>A (p.Arg609His)	rs754162070	0.00001
NM_016111.4(TELO2):c.1842+5G>A	rs758551997	0.00001
NM_016111.4(TELO2):c.779C>T (p.Pro260Leu)	rs369656775	0.00001
NM_016111.3(TELO2):c.[514C>T;2034+1G>A]
NM_016111.4(TELO2):c.1612_1621dup (p.Leu541delinsProTer)

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