List of variants reported as uncertain significance for connective and soft tissue neoplasm by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_023110.3(FGFR1):c.937-14G>A	rs779223305	0.00004
NM_000368.5(TSC1):c.1328G>T (p.Gly443Val)	rs1489175329	0.00002
NM_023110.3(FGFR1):c.1342C>T (p.Arg448Trp)	rs749903780	0.00002
NM_000548.5(TSC2):c.3132-13C>T	rs371948435	0.00001
NM_000548.5(TSC2):c.3284+6T>G	rs375837026	0.00001
NM_003072.5(SMARCA4):c.2439-12T>G	rs1462368992	0.00001
NM_000059.4(BRCA2):c.9874C>T (p.Pro3292Ser)	rs876660917
NM_000368.5(TSC1):c.359T>C (p.Leu120Pro)	rs1554820262
NM_000548.5(TSC2):c.1119+7T>G	rs778981693
NM_000548.5(TSC2):c.2966+24del	rs1188094714
NM_000548.5(TSC2):c.2983C>A (p.Leu995Ile)	rs752248140
NM_000548.5(TSC2):c.3132-3T>C	rs2089821106
NM_000548.5(TSC2):c.4262G>C (p.Gly1421Ala)	rs1368001965
NM_003072.5(SMARCA4):c.1358C>T (p.Thr453Ile)	rs1057518862
NM_003072.5(SMARCA4):c.1944-12C>A	rs149763341
NM_003072.5(SMARCA4):c.2092G>A (p.Val698Ile)	rs1600168349
NM_003072.5(SMARCA4):c.4171-1861A>G	rs771462690

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