List of variants reported as likely pathogenic for Developmental and epileptic encephalopathy 94 by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 35

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HGVS	dbSNP	gnomAD frequency
NM_001271.4(CHD2):c.2537G>A (p.Arg846Gln)	rs1429234959	0.00001
NM_001271.4(CHD2):c.5027G>A (p.Gly1676Glu)	rs150951454	0.00001
NC_000015.9:g.(?_93540167)_(93540653_?)dup
NC_000015.9:g.(?_93547827)_(93558159_?)dup
NM_001271.4(CHD2):c.1053-2A>C	rs2505451901
NM_001271.4(CHD2):c.1198+2T>C	rs2505457598
NM_001271.4(CHD2):c.1503-2A>G	rs2505480050
NM_001271.4(CHD2):c.1720-155_1727delinsT	rs1596406306
NM_001271.4(CHD2):c.1809+1G>A	rs1057520592
NM_001271.4(CHD2):c.1862G>C (p.Arg621Pro)	rs2141816539
NM_001271.4(CHD2):c.2190-1G>C	rs2053845402
NM_001271.4(CHD2):c.2432T>C (p.Leu811Pro)	rs1596419511
NM_001271.4(CHD2):c.2470G>C (p.Ala824Pro)	rs2505528053
NM_001271.4(CHD2):c.2652_2654del (p.Phe885del)	rs1596427937
NM_001271.4(CHD2):c.2699G>T (p.Arg900Leu)	rs1567149946
NM_001271.4(CHD2):c.2876+1G>T	rs2505545691
NM_001271.4(CHD2):c.3220C>T (p.Arg1074Trp)	rs2141850669
NM_001271.4(CHD2):c.3237+1G>A	rs2505559102
NM_001271.4(CHD2):c.3388G>A (p.Gly1130Arg)	rs2505562545
NM_001271.4(CHD2):c.3414-2A>G	rs2505576912
NM_001271.4(CHD2):c.3491A>G (p.Asp1164Gly)	rs2505580525
NM_001271.4(CHD2):c.381+1G>A	rs2053081680
NM_001271.4(CHD2):c.3815G>A (p.Gly1272Glu)	rs2141867671
NM_001271.4(CHD2):c.3886-1G>C	rs2505593774
NM_001271.4(CHD2):c.390C>T (p.Ser130=)	rs1555437851
NM_001271.4(CHD2):c.4009-2A>G	rs770408707
NM_001271.4(CHD2):c.4137+2T>C	rs2505599524
NM_001271.4(CHD2):c.4278+1G>A	rs2141873750
NM_001271.4(CHD2):c.4414-2A>G	rs2141881521
NM_001271.4(CHD2):c.443+1G>A	rs2141755359
NM_001271.4(CHD2):c.4600T>C (p.Trp1534Arg)	rs2505624851
NM_001271.4(CHD2):c.4613C>T (p.Ser1538Phe)	rs1596456893
NM_001271.4(CHD2):c.4906+1G>T	rs2141888378
NM_001271.4(CHD2):c.692+1G>C	rs1555439036
NM_001271.4(CHD2):c.693-3C>A	rs2141785016

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