List of variants reported as uncertain significance for West syndrome by Genetic Services Laboratory, University of Chicago

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Total variants: 27

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HGVS	dbSNP	gnomAD frequency
NM_001130438.3(SPTAN1):c.4199A>T (p.Gln1400Leu)	rs143108250	0.00073
NM_001130438.3(SPTAN1):c.5478+12G>A	rs41275900	0.00067
NM_001130438.3(SPTAN1):c.7309-15T>C	rs370705867	0.00067
NM_001130438.3(SPTAN1):c.7161-9C>T	rs187613754	0.00061
NM_001130438.3(SPTAN1):c.2889G>A (p.Thr963=)	rs34654141	0.00028
NM_001323289.2(CDKL5):c.283-13A>G	rs587783404	0.00011
NM_001323289.2(CDKL5):c.2200A>G (p.Thr734Ala)	rs55803460	0.00010
NM_001130438.3(SPTAN1):c.1389C>T (p.Tyr463=)	rs587784431	0.00001
NM_001130438.3(SPTAN1):c.1697G>A (p.Arg566Gln)	rs370304886	0.00001
NM_001130438.3(SPTAN1):c.3193C>T (p.Arg1065Cys)	rs587784436	0.00001
NM_001130438.3(SPTAN1):c.3415-9G>T	rs199802986	0.00001
NM_001130438.3(SPTAN1):c.5149-10C>T	rs587784437	0.00001
NM_001130438.3(SPTAN1):c.6763-7C>T	rs587784439	0.00001
NM_001323289.2(CDKL5):c.1678A>G (p.Thr560Ala)	rs587783400	0.00001
NM_001323289.2(CDKL5):c.2653G>A (p.Gly885Arg)	rs398123694	0.00001
NM_000330.4(RS1):c.185-3100G>T	rs587783403
NM_001130438.3(SPTAN1):c.1603C>A (p.Gln535Lys)	rs79650677
NM_001130438.3(SPTAN1):c.1677C>G (p.His559Gln)	rs587784432
NM_001130438.3(SPTAN1):c.2064G>A (p.Glu688=)	rs587784433
NM_001130438.3(SPTAN1):c.2438-13T>G	rs587784434
NM_001130438.3(SPTAN1):c.2674G>T (p.Ala892Ser)	rs587784435
NM_001130438.3(SPTAN1):c.3899T>C (p.Ile1300Thr)	rs1048236
NM_001130438.3(SPTAN1):c.5023T>A (p.Phe1675Ile)	rs1129924
NM_001130438.3(SPTAN1):c.5981A>G (p.Glu1994Gly)	rs11543346
NM_001130438.3(SPTAN1):c.6498C>A (p.Arg2166=)	rs72758823
NM_001323289.2(CDKL5):c.248G>T (p.Gly83Val)	rs587783402
NM_001323289.2(CDKL5):c.969G>A (p.Leu323=)	rs587783407

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