List of variants reported as likely pathogenic for complex neurodevelopmental disorder by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

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Total variants: 22

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HGVS	dbSNP	gnomAD frequency
NM_015213.4(DENND5A):c.2314C>T (p.Arg772Ter)	rs1057519563	0.00003
NM_015213.4(DENND5A):c.3629G>A (p.Arg1210Gln)	rs1057519564	0.00001
NM_000807.4(GABRA2):c.862A>G (p.Thr288Ala)
NM_000834.5(GRIN2B):c.1858G>A (p.Val620Met)	rs796052571
NM_001032221.6(STXBP1):c.451_454del (p.Asp151fs)
NM_001040142.2(SCN2A):c.2774T>C (p.Met925Thr)	rs1057518373
NM_001040142.2(SCN2A):c.4644G>C (p.Met1548Ile)	rs1574746759
NM_001127222.2(CACNA1A):c.1785C>G (p.Tyr595Ter)	rs2057948502
NM_001127222.2(CACNA1A):c.2133C>G (p.Ile711Met)	rs764839814
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met)	rs794727411
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His)	rs121908216
NM_001165963.4(SCN1A):c.707T>C (p.Ile236Thr)	rs886039464
NM_001323289.2(CDKL5):c.89G>A (p.Cys30Tyr)	rs1555940536
NM_001330260.2(SCN8A):c.5276A>G (p.Asn1759Ser)	rs869312690
NM_001330260.2(SCN8A):c.719T>C (p.Ile240Thr)	rs1592387849
NM_002641.4(PIGA):c.395C>G (p.Ser132Cys)	rs1060499625
NM_005249.5(FOXG1):c.553A>T (p.Ser185Cys)	rs879255530
NM_005898.5(CAPRIN1):c.274C>T (p.Gln92Ter)
NM_019066.5(MAGEL2):c.3131C>A (p.Ser1044Ter)	rs1267004913
NM_020922.5(WNK3):c.4000dup (p.Arg1334fs)
NM_031844.3(HNRNPU):c.67C>T (p.Arg23Ter)	rs869312701
NM_172107.4(KCNQ2):c.1148+2T>A

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