List of variants reported as uncertain significance for Beckwith-Wiedemann syndrome by Sema4, Sema4

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_001122630.2(CDKN1C):c.39A>G (p.Leu13=)	rs3852522	0.00100
NM_001122630.2(CDKN1C):c.423G>A (p.Pro141=)	rs878853626	0.00044
NM_001122630.2(CDKN1C):c.367G>C (p.Glu123Gln)	rs1013695050	0.00019
NM_001122630.2(CDKN1C):c.736G>T (p.Ala246Ser)	rs754283907	0.00014
NM_001122630.2(CDKN1C):c.853C>T (p.Pro285Ser)	rs531059713	0.00007
NM_001122630.2(CDKN1C):c.*5+20G>T	rs760540648
NM_001122630.2(CDKN1C):c.11T>C (p.Leu4Pro)	rs756961090
NM_001122630.2(CDKN1C):c.334G>T (p.Ala112Ser)	rs1395949690
NM_001122630.2(CDKN1C):c.455_472del (p.Ala152_Pro157del)	rs1554937999
NM_001122630.2(CDKN1C):c.487GCGGTC[3] (p.163AV[3])	rs889984547
NM_001122630.2(CDKN1C):c.525_548del (p.168_169AP[4])	rs878853630
NM_001122630.2(CDKN1C):c.573GGCCCC[5] (p.186AP[11])	rs759134767

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