List of variants reported as pathogenic for neurodevelopmental disorder with dysmorphic facies and variable seizures by OMIM

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_206538.4(EMC10):c.188-2A>C	rs2513792624
NM_206538.4(EMC10):c.259C>T (p.Gln87Ter)	rs1008544115
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)	rs1211225273
NM_206538.4(EMC10):c.66del (p.Ser23fs)	rs2513789400
NM_206538.4(EMC10):c.679-1G>A	rs2122664852

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