List of variants reported as likely pathogenic for chromosomal disorder by Molecular Genetics Laboratory, Motol Hospital

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_006940.6(SOX5):c.234T>A (p.Cys78Ter)
NM_022455.5(NSD1):c.5356_5360del (p.Lys1786fs)
NM_078480.3(PUF60):c.207+1G>C

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