ClinVar Miner

List of variants reported as pathogenic for TELO2-related intellectual disability-neurodevelopmental disorder by Mendelics

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_016111.4(TELO2):c.2296G>A (p.Val766Met)	rs371675497	0.00010
NM_016111.4(TELO2):c.1825C>T (p.Arg609Cys)	rs766665093	0.00001
NM_016111.4(TELO2):c.1842+5G>A	rs758551997	0.00001

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