List of variants studied for Neurodevelopmental disorder with dysmorphic facies and variable seizures

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_206538.4(EMC10):c.343C>T (p.Arg115Ter)	rs151303712	0.00011
NM_206538.4(EMC10):c.70C>T (p.Arg24Ter)	rs953380956	0.00001
NM_206538.4(EMC10):c.188-2A>C
NM_206538.4(EMC10):c.259C>T (p.Gln87Ter)
NM_206538.4(EMC10):c.287del (p.Gly96fs)	rs770255014
NM_206538.4(EMC10):c.289C>T (p.Arg97Ter)	rs765552403
NM_206538.4(EMC10):c.543dup (p.Asn182fs)
NM_206538.4(EMC10):c.554del (p.Val185fs)
NM_206538.4(EMC10):c.66del (p.Ser23fs)
NM_206538.4(EMC10):c.679-1G>A	rs2122664852
NM_206538.4(EMC10):c.679-267dup

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