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

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_006306.4(SMC1A):c.*348C>T	rs782700234	0.00010
NM_005445.4(SMC3):c.1670+6_1670+7insAAC	rs766155607	0.00006
NM_133433.4(NIPBL):c.1376T>G (p.Ile459Arg)	rs150837768	0.00004
NM_133433.4(NIPBL):c.5054C>T (p.Thr1685Ile)	rs775077572	0.00001
NM_005445.4(SMC3):c.*298del	rs886046697
NM_005445.4(SMC3):c.2535+28dup	rs397847637
NM_006306.4(SMC1A):c.*817ACAG[1]	rs1057515968
NM_133433.4(NIPBL):c.265_266del	rs886060563
NM_133433.4(NIPBL):c.*460del	rs768908921
NM_133433.4(NIPBL):c.742_743del	rs886060567
NM_133433.4(NIPBL):c.-153dup	rs567891305
NM_133433.4(NIPBL):c.-416dup	rs886060553

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