List of variants reported as likely pathogenic for connective tissue neoplasm by MGZ Medical Genetics Center

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000127.3(EXT1):c.1723-2A>T	rs1823255835
NM_024529.5(CDC73):c.1195C>T (p.Arg399Ter)	rs1677688362
NM_207122.2(EXT2):c.832G>T (p.Glu278Ter)

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