List of variants reported as likely pathogenic for chromosomal disorder by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001145358.2(SIN3A):c.2948dup (p.Arg984fs)	rs2141415824
NM_001172509.2(SATB2):c.1218_1221del (p.Ala407fs)	rs1574510975
NM_002397.5(MEF2C):c.194T>G (p.Val65Gly)	rs1580988074
NM_006940.6(SOX5):c.637C>T (p.Arg213Ter)	rs767241917
NM_022455.5(NSD1):c.4538_4539insTCCT (p.Glu1513fs)	rs1581433729
NM_022455.5(NSD1):c.6020T>C (p.Ile2007Thr)	rs1554204921
NM_022455.5(NSD1):c.6256A>T (p.Lys2086Ter)	rs1581548112
NM_078480.3(PUF60):c.1381-2A>G	rs1057518681
NM_078480.3(PUF60):c.1558del (p.Ser520fs)	rs1586555859

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