List of variants reported as pathogenic for complex neurodevelopmental disorder by Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_001032221.6(STXBP1):c.325+5G>A
NM_001110792.2(MECP2):c.1168_1169del (p.Ala390fs)	rs2065925520
NM_001110792.2(MECP2):c.988dup (p.Glu330fs)	rs1603308287
NM_001127222.2(CACNA1A):c.2804_2814dup (p.Ser939fs)	rs1600272344
NM_001127222.2(CACNA1A):c.4539_4540del (p.Phe1513fs)	rs2056600391
NM_001184880.2(PCDH19):c.138_139delinsTT (p.Arg47Ter)	rs1555985820
NM_001271.4(CHD2):c.1387C>T (p.Gln463Ter)	rs2141802487
NM_004408.4(DNM1):c.1036G>A (p.Gly346Ser)	rs1554774575
NM_005249.5(FOXG1):c.632T>C (p.Ile211Thr)	rs1594383648
NM_057175.5(NAA15):c.995T>G (p.Leu332Ter)	rs2110935239
NM_172107.4(KCNQ2):c.601C>G (p.Arg201Gly)

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