List of variants studied for central nervous system malformation by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)	rs113994152	0.00092
NM_016111.4(TELO2):c.1772T>G (p.Val591Gly)	rs142217951	0.00006
NM_016111.4(TELO2):c.2159A>T (p.Asp720Val)	rs878853271	0.00003
NM_153816.6(SNX14):c.2670del (p.Lys889_Cys890insTer)	rs774694340	0.00001
NM_000435.3(NOTCH3):c.6409_6410del (p.Leu2137fs)
NM_001134831.2(AHI1):c.1052G>A (p.Arg351Gln)	rs397514726
NM_001134831.2(AHI1):c.2988del (p.Val997fs)	rs755246809
NM_001367721.1(CASK):c.1997dup (p.Asn666fs)	rs1602253464
NM_002547.3(OPHN1):c.2035G>A (p.Asp679Asn)	rs869312676
NM_004958.4(MTOR):c.4606A>G (p.Ile1536Val)	rs886041096
NM_004958.4(MTOR):c.4785G>A (p.Met1595Ile)	rs869312671
NM_004958.4(MTOR):c.505-2A>G	rs869312706
NM_004958.4(MTOR):c.5663T>G (p.Phe1888Cys)	rs869312666
NM_004958.4(MTOR):c.6981G>A (p.Met2327Ile)	rs878855328
NM_153816.6(SNX14):c.1707_1708insTTTTTTTTTTT (p.Pro570fs)	rs1057519561
NM_207346.3(TSEN54):c.503T>G (p.Val168Gly)	rs2147009566

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