List of variants studied for syndrome caused by partial chromosomal deletion by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001172509.2(SATB2):c.376C>T (p.Leu126Phe)	rs1574568704
NM_006940.6(SOX5):c.1075G>A (p.Gly359Ser)	rs754590341
NM_022455.5(NSD1):c.6026C>T (p.Ala2009Val)	rs1581535417
NM_030665.4(RAI1):c.2238G>A (p.Trp746Ter)	rs1598089943
NM_078480.3(PUF60):c.931del (p.Thr311fs)	rs1586565506

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