ClinVar Miner

List of variants reported as likely pathogenic for Radio-Tartaglia syndrome by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_015001.3(SPEN):c.5806C>T (p.Arg1936Ter)	rs2071226510
NM_015001.3(SPEN):c.7171del (p.His2391fs)
NM_015001.3(SPEN):c.961C>T (p.Gln321Ter)

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