List of variants studied for X-linked intellectual disability-epilepsy syndrome by Genetic Services Laboratory, University of Chicago

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001184880.2(PCDH19):c.1683G>A (p.Pro561=)	rs192354176	0.00272
NM_001184880.2(PCDH19):c.3319C>G (p.Arg1107Gly)	rs191333060	0.00123
NM_001184880.2(PCDH19):c.1548C>T (p.Tyr516=)	rs587784295	0.00003
NM_001184880.2(PCDH19):c.2359C>T (p.Arg787Cys)	rs376390125	0.00001
NM_001184880.2(PCDH19):c.2742A>G (p.Gln914=)	rs61742914	0.00001
NM_001184880.2(PCDH19):c.686C>T (p.Thr229Ile)	rs587784298	0.00001
NM_001184880.2(PCDH19):c.1969C>T (p.Leu657Phe)	rs587784296
NM_001184880.2(PCDH19):c.2399del (p.Asn800fs)	rs796052836
NM_001184880.2(PCDH19):c.2975C>A (p.Ala992Glu)	rs371109150
NM_001184880.2(PCDH19):c.490C>T (p.Gln164Ter)	rs797045873
NM_001184880.2(PCDH19):c.497A>T (p.Tyr166Phe)	rs587784297
NM_001184880.2(PCDH19):c.695A>T (p.Asn232Ile)	rs587784299
NM_001184880.2(PCDH19):c.790G>T (p.Asp264Tyr)	rs587784300

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