List of variants reported as uncertain significance for Weaver syndrome by Illumina Laboratory Services, Illumina

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_022455.5(NSD1):c.4605C>T (p.Arg1535=)	rs140229717	0.00010
NM_022455.5(NSD1):c.*1014dup	rs886060448	0.00005
NM_022455.5(NSD1):c.*4596del	rs886060459	0.00003
NM_022455.5(NSD1):c.1063+10dup	rs762416925	0.00001
NM_004456.5(EZH2):c.-73GCG[7]	rs886062083
NM_004456.5(EZH2):c.2111-3_2115dup
NM_004456.5(EZH2):c.44G>T (p.Trp15Leu)	rs760133156
NM_022455.5(NSD1):c.*216CCAA[1]	rs886060444
NM_022455.5(NSD1):c.4609_4611del	rs60995782
NM_022455.5(NSD1):c.4610_4611del	rs60995782
NM_022455.5(NSD1):c.4610_4611dup	rs60995782
NM_022455.5(NSD1):c.*4611dup	rs60995782
NM_022455.5(NSD1):c.*4612del	rs886060465
NM_022455.5(NSD1):c.*565del	rs886060446
NM_022455.5(NSD1):c.*839dup	rs886060447

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