List of variants reported as pathogenic for syndrome caused by partial chromosomal deletion by Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001145358.2(SIN3A):c.349C>T (p.Gln117Ter)	rs2141540759
NM_022455.5(NSD1):c.1831C>T (p.Arg611Ter)	rs587784077
NM_022455.5(NSD1):c.3271dup (p.Leu1091fs)	rs1763353656
NM_022455.5(NSD1):c.3548_3549insG (p.Ser1183_Glu1184insTer)	rs878855075
NM_022455.5(NSD1):c.6651G>T (p.Glu2217Asp)	rs1760069281
NM_078480.3(PUF60):c.284_285del (p.Leu95fs)	rs1817027997
NM_078480.3(PUF60):c.449_457del (p.Ala150_Phe152del)	rs1131692232
NM_078480.3(PUF60):c.612_630del (p.Asn207fs)	rs1816565452
NM_078480.3(PUF60):c.712_713del (p.Ser238fs)	rs1816555365
NM_078480.3(PUF60):c.746_747insCACAC (p.Gly250fs)	rs1816551992

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