List of variants reported as likely pathogenic for complex neurodevelopmental disorder by Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_016373.4(WWOX):c.173-6T>G	rs200812468	0.00004
NM_001110792.2(MECP2):c.710C>G (p.Pro237Arg)	rs61749715
NM_001127222.2(CACNA1A):c.2598_2599dup (p.Arg867fs)	rs2144956340
NM_001127222.2(CACNA1A):c.6358C>T (p.Pro2120Ser)	rs2054721635
NM_001165963.4(SCN1A):c.472G>C (p.Glu158Gln)	rs796053090
NM_001184880.2(PCDH19):c.1343A>G (p.Asp448Gly)	rs1928395285
NM_001330260.2(SCN8A):c.2633T>C (p.Leu878Pro)	rs1942828881
NM_001330260.2(SCN8A):c.4264G>A (p.Ala1422Thr)	rs2138908345
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser)	rs587780455
NM_001958.5(EEF1A2):c.1138G>C (p.Asp380His)	rs2082366378
NM_003705.5(SLC25A12):c.1490T>A (p.Ile497Asn)	rs2105837590
NM_004974.4(KCNA2):c.890G>A (p.Arg297Gln)	rs786205232
NM_004974.4(KCNA2):c.906T>G (p.Phe302Leu)	rs764822052
NM_020988.3(GNAO1):c.973T>G (p.Cys325Gly)	rs2037954227
NM_172107.4(KCNQ2):c.26G>A (p.Gly9Asp)
NM_172107.4(KCNQ2):c.787A>G (p.Thr263Ala)	rs2081188385
NM_173495.3(PTCHD1):c.898G>C (p.Gly300Arg)	rs1922524280

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