List of variants reported as pathogenic for connective tissue neoplasm by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000127.3(EXT1):c.1551G>A (p.Trp517Ter)	rs1811865335
NM_000127.3(EXT1):c.2077del (p.Ala693fs)	rs1823138986
NM_023110.3(FGFR1):c.1671del (p.Leu557fs)	rs1816433701
NM_024529.5(CDC73):c.271C>T (p.Arg91Ter)	rs1558280170

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