List of variants studied for central nervous system malformation by Suma Genomics

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)	rs137852832	0.00006
NM_025114.4(CEP290):c.6645+1G>A	rs201218801	0.00006
NM_005559.4(LAMA1):c.7180C>T (p.Arg2394Ter)	rs542213899	0.00001
NM_001134831.2(AHI1):c.1799_1802del (p.Lys600fs)	rs1786504555
NM_001367721.1(CASK):c.617G>A (p.Gly206Asp)	rs587783367
NM_001378615.1(CC2D2A):c.4226T>C (p.Ile1409Thr)	rs863225176
NM_025114.4(CEP290):c.3518A>C (p.Gln1173Pro)	rs2137303851
NM_025233.7(COASY):c.1238-24_1238-20del

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