List of variants reported as pathogenic for complex neurodevelopmental disorder by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_001040142.2(SCN2A):c.1154del (p.Phe385fs)	rs879253767
NM_001040142.2(SCN2A):c.1552G>T (p.Glu518Ter)	rs1553569732
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys)	rs28934904
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg)	rs61748404
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter)	rs61748421
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln)	rs1057520918
NM_001165963.4(SCN1A):c.677C>T (p.Thr226Met)	rs121917984
NM_001271.4(CHD2):c.2324_2328del (p.Glu775fs)
NM_172107.4(KCNQ2):c.1080G>A (p.Trp360Ter)	rs1600732174
NM_172107.4(KCNQ2):c.868G>T (p.Gly290Cys)
NM_203446.3(SYNJ1):c.3208C>T (p.Arg1070Ter)	rs1373545506

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