List of variants reported as uncertain significance for Developmental and epileptic encephalopathy, 69 by New York Genome Center

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_001205293.3(CACNA1E):c.1696T>C (p.Phe566Leu)	rs377297262	0.00001
NM_001205293.3(CACNA1E):c.2314C>T (p.Arg772Trp)	rs1355669731	0.00001
NM_001205293.3(CACNA1E):c.2774G>A (p.Arg925His)	rs373971175	0.00001
NM_001205293.3(CACNA1E):c.32G>T (p.Arg11Met)	rs767620162	0.00001
NM_001205293.3(CACNA1E):c.4187G>A (p.Arg1396His)	rs776066299	0.00001
NM_001205293.3(CACNA1E):c.513-15449G>A	rs1649408073	0.00001
NM_001205293.3(CACNA1E):c.6901A>G (p.Asn2301Asp)	rs1662050689	0.00001
NM_001205293.3(CACNA1E):c.1422A>T (p.Lys474Asn)	rs2102461555
NM_001205293.3(CACNA1E):c.3160_3161dup (p.Cys1055fs)	rs2102558297
NM_001205293.3(CACNA1E):c.3235C>T (p.Pro1079Ser)	rs1007809575
NM_001205293.3(CACNA1E):c.3612+226A>G	rs1486716719
NM_001205293.3(CACNA1E):c.6664G>A (p.Ala2222Thr)	rs369634310
NM_001205293.3(CACNA1E):c.951+29674C>T	rs1654651595
NM_001205293.3(CACNA1E):c.[2253G>A;2255G>A]

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