List of variants in gene TELO2 reported as likely pathogenic for chromosomal 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: 6

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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.392G>A (p.Gly131Asp)	rs187225056	0.00006
NM_016111.4(TELO2):c.1772T>G (p.Val591Gly)	rs142217951	0.00004
NM_016111.4(TELO2):c.682+1G>A	rs779227414	0.00001
NM_016111.4(TELO2):c.2226+1G>C
NM_016111.4(TELO2):c.946C>T (p.Gln316Ter)

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