ClinVar Miner

List of variants reported as benign for Radio-Tartaglia syndrome

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_015001.3(SPEN):c.3272T>C (p.Leu1091Pro)	rs848209	0.67858
NM_015001.3(SPEN):c.7078A>G (p.Asn2360Asp)	rs848210	0.67847
NM_015001.3(SPEN):c.1635+6C>T	rs114910457	0.01389

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