ClinVar Miner

List of variants reported as likely pathogenic for Lennox-Gastaut syndrome by Invitae

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_001271.4(CHD2):c.5027G>A (p.Gly1676Glu) rs150951454 0.00001
NC_000015.9:g.(?_93547827)_(93558159_?)dup
NM_001271.4(CHD2):c.1052+1G>T
NM_001271.4(CHD2):c.1053-2A>C
NM_001271.4(CHD2):c.1198+2T>C
NM_001271.4(CHD2):c.1503-2A>G
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)
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
NM_001271.4(CHD2):c.3220C>T (p.Arg1074Trp) rs2141850669
NM_001271.4(CHD2):c.3237+1G>A
NM_001271.4(CHD2):c.3388G>A (p.Gly1130Arg)
NM_001271.4(CHD2):c.3414-2A>G
NM_001271.4(CHD2):c.3491A>G (p.Asp1164Gly)
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
NM_001271.4(CHD2):c.390C>T (p.Ser130=) rs1555437851
NM_001271.4(CHD2):c.4009-2A>G
NM_001271.4(CHD2):c.4137+2T>C
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)
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
NM_004408.4(DNM1):c.1081C>G (p.Arg361Gly) rs1835085971
NM_004408.4(DNM1):c.128G>A (p.Gly43Asp) rs1833622746
NM_004408.4(DNM1):c.1343A>C (p.Gln448Pro)
NM_004408.4(DNM1):c.134G>A (p.Ser45Asn) rs1554767317
NM_004408.4(DNM1):c.1615A>G (p.Lys539Glu) rs1554781553
NM_004408.4(DNM1):c.1726G>A (p.Glu576Lys) rs2131283599
NM_004408.4(DNM1):c.236-2A>C
NM_004408.4(DNM1):c.443A>G (p.Gln148Arg) rs1554772959
NM_004408.4(DNM1):c.604G>A (p.Gly202Arg) rs1057524561

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