List of variants reported as likely benign for De Lange syndrome

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_006306.4(SMC1A):c.*96C>T	rs139317060	0.01188
NM_006306.4(SMC1A):c.*3838G>A	rs144702614	0.01053
NM_006306.4(SMC1A):c.*2973C>T	rs56110615	0.01037
NM_006306.4(SMC1A):c.2197-5T>C	rs2297104	0.00852
NM_006306.4(SMC1A):c.*5380G>A	rs186354950	0.00739
NM_006306.4(SMC1A):c.*4645T>C	rs150365487	0.00678
NM_006306.4(SMC1A):c.*14C>T	rs112727682	0.00436
NM_006306.4(SMC1A):c.4952_4953del	rs782700101	0.00325
NM_006306.4(SMC1A):c.*2540C>G	rs182535846	0.00007
NM_006306.4(SMC1A):c.*2589A>G	rs782291666	0.00007
NM_005445.3(SMC3):c.-135G>A	rs17127559	0.00003
NM_005445.3(SMC3):c.-130G>A	rs559499419	0.00002
NM_005445.4(SMC3):c.548-5_548-4dup	rs199906378
NM_133433.4(NIPBL):c.282_285del	rs535770794
NM_133433.4(NIPBL):c.*84dup	rs587783876
NM_133433.4(NIPBL):c.-429del	rs376839773
NM_133433.4(NIPBL):c.1495+8_1495+10del	rs398124464
NM_133433.4(NIPBL):c.7697A>G (p.Lys2566Arg)	rs1216631170

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