List of variants reported as pathogenic for Developmental and epileptic encephalopathy, 9 by 3billion

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001184880.2(PCDH19):c.695A>G (p.Asn232Ser)	rs587784299	0.00001
NM_001184880.2(PCDH19):c.1019A>G (p.Asn340Ser)	rs796052839
NM_001184880.2(PCDH19):c.1031C>T (p.Pro344Leu)	rs796052811
NM_001184880.2(PCDH19):c.2391_2392del (p.Asp797fs)	rs2147533347

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