List of variants reported for Smith-Magenis Syndrome-like by Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_017721.5(CC2D1A):c.1739C>T (p.Thr580Ile)	rs202057391	0.00476
NM_017721.5(CC2D1A):c.2657G>A (p.Arg886His)	rs201921029	0.00072
NM_000170.3(GLDC):c.1940C>T (p.Pro647Leu)	rs201135624	0.00006
NM_004187.5(KDM5C):c.3068A>G (p.Lys1023Arg)	rs782367133	0.00002
NM_000170.3(GLDC):c.2177T>A (p.Leu726Gln)	rs1114167353
NM_001099433.2(JAKMIP1):c.1756G>C (p.Asp586His)	rs1114167350
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer)	rs61752992
NM_001367721.1(CASK):c.1465C>T (p.Arg489Trp)	rs1114167352
NM_003482.4(KMT2D):c.10252G>T (p.Glu3418Ter)	rs1114167348
NM_014795.4(ZEB2):c.3146A>C (p.His1049Pro)	rs1114167349
NM_015100.4(POGZ):c.2321_2324del (p.Ser774fs)	rs864321671
NM_030662.4(MAP2K2):c.210_212del (p.Asp71del)	rs1114167351

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