List of variants studied for central nervous system malformation by Centogene AG - the Rare Disease Company

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_033026.6(PCLO):c.1771C>T (p.Leu591Phe)	rs185699361	0.00033
NM_033026.6(PCLO):c.12572A>G (p.His4191Arg)	rs369940919	0.00004
NM_153816.6(SNX14):c.1108G>T (p.Glu370Ter)	rs201128942	0.00003
NM_002547.3(OPHN1):c.1226G>A (p.Arg409His)	rs771624663	0.00001
NC_000002.12:g.110069919_110205214del
NM_001367721.1(CASK):c.1465C>T (p.Arg489Trp)	rs1114167352
NM_001367721.1(CASK):c.533-5T>G	rs2147479605
NM_001367721.1(CASK):c.915+1G>A	rs2147368049
NM_002547.3(OPHN1):c.812A>G (p.Tyr271Cys)	rs2077578419
NM_003384.3(VRK1):c.1066A>T (p.Lys356Ter)	rs1223645705
NM_003384.3(VRK1):c.706G>A (p.Val236Met)	rs771364038
NM_004958.4(MTOR):c.422C>T (p.Thr141Ile)	rs1266943208
NM_004958.4(MTOR):c.5395G>A (p.Glu1799Lys)	rs863225264
NM_006218.4(PIK3CA):c.1133G>A (p.Cys378Tyr)	rs397514565
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg)	rs121913279
NM_014233.4(UBTF):c.785_792delinsCTG (p.Asp262fs)	rs2144538635
NM_020320.5(RARS2):c.1A>T (p.Met1Leu)	rs774923951

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