ClinVar Miner

List of variants reported as benign for Radio-Tartaglia syndrome by Genome-Nilou Lab

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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	0.68752
NM_015001.3(SPEN):c.7078A>G (p.Asn2360Asp)	rs848210	0.68737
NM_015001.3(SPEN):c.1635+6C>T

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