List of variants reported as likely pathogenic for syndrome caused by partial chromosomal deletion by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_001134673.4(NFIA):c.1228C>T (p.Gln410Ter)	rs1665711818
NM_001145358.2(SIN3A):c.866C>A (p.Ser289Ter)	rs1347764887
NM_001172509.2(SATB2):c.1808_1817del (p.Pro603fs)	rs1692192971
NM_001172509.2(SATB2):c.823C>T (p.Gln275Ter)	rs1688736712
NM_001378120.1(MBD5):c.830C>G (p.Ser277Ter)	rs1029755113
NM_006940.6(SOX5):c.482-2A>C	rs1057518845
NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln)	rs587784177

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