List of variants reported as pathogenic for complex neurodevelopmental disorder by New York Genome Center

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr)	rs114925667	0.00169
NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys)	rs61748390
NM_001130438.3(SPTAN1):c.7229C>T (p.Ser2410Phe)	rs2132106592
NM_001165963.4(SCN1A):c.3124C>T (p.Gln1042Ter)	rs1553540342
NM_001197104.2(KMT2A):c.7020del (p.Asn2340fs)	rs1950523317
NM_001199107.2(TBC1D24):c.642_793del (p.Trp215fs)	rs2141872119
NM_001330260.2(SCN8A):c.2901+2T>C	rs2138863154
NM_004068.4(AP2M1):c.508C>T (p.Arg170Trp)	rs1577059692
NM_004975.4(KCNB1):c.916C>T (p.Arg306Cys)	rs1555889130
NM_020822.3(KCNT1):c.1283G>A (p.Arg428Gln)
NM_030948.6(PHACTR1):c.1396C>A (p.Leu466Met)	rs2127450867

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