List of variants reported as pathogenic for multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome by Molecular Genetics Laboratory, Motol Hospital

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_003106.4(SOX2):c.935_936del (p.Leu312fs)
NM_017780.4(CHD7):c.1807_1808del (p.Asn603fs)
NM_017780.4(CHD7):c.5499_5500del (p.Gly1835fs)

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