ClinVar Miner

List of variants studied for Lennox-Gastaut syndrome by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_000814.6(GABRB3):c.1033A>G (p.Lys345Glu) rs1224993536 0.00002
NM_001271.4(CHD2):c.2507G>A (p.Arg836His) rs1429832116 0.00001
NM_001271.4(CHD2):c.3386A>G (p.Glu1129Gly) rs927604763 0.00001
NM_000814.6(GABRB3):c.151C>G (p.Arg51Gly) rs2140199581
NM_000814.6(GABRB3):c.437A>C (p.Asp146Ala)
NM_000814.6(GABRB3):c.767T>A (p.Leu256Gln) rs1890228169
NM_000814.6(GABRB3):c.8del (p.Gly3fs) rs1891196700
NM_000814.6(GABRB3):c.905A>G (p.Tyr302Cys) rs1889966424
NM_001271.4(CHD2):c.1681_1692del (p.Val561_Tyr564del) rs2141811654
NM_001271.4(CHD2):c.1913C>G (p.Ser638Cys) rs2053619310
NM_001271.4(CHD2):c.229C>G (p.Pro77Ala) rs1228076921
NM_001271.4(CHD2):c.2650A>G (p.Ile884Val) rs2053935304
NM_001271.4(CHD2):c.2705A>G (p.His902Arg) rs2053935622
NM_001271.4(CHD2):c.2813T>C (p.Leu938Pro) rs2053946404
NM_001271.4(CHD2):c.3031A>G (p.Thr1011Ala) rs2053978897
NM_001271.4(CHD2):c.3542G>A (p.Cys1181Tyr) rs2141861661
NM_001271.4(CHD2):c.3700_3707del (p.Lys1234fs) rs2054197493
NM_001271.4(CHD2):c.3782G>T (p.Trp1261Leu) rs1555444603
NM_001271.4(CHD2):c.3805C>G (p.Leu1269Val) rs1308763946
NM_001271.4(CHD2):c.3925C>T (p.Gln1309Ter) rs2054212444
NM_001271.4(CHD2):c.4173dup (p.Gln1392fs) rs749969667
NM_001271.4(CHD2):c.4511A>G (p.Asn1504Ser) rs2141881607
NM_001271.4(CHD2):c.5035C>T (p.Arg1679Ter) rs797044912
NM_001271.4(CHD2):c.5234C>G (p.Ser1745Cys) rs2141761439
NM_001271.4(CHD2):c.693-1G>A rs2053387699
NM_004408.4(DNM1):c.1138G>T (p.Asp380Tyr) rs1835101754
NM_004408.4(DNM1):c.119A>C (p.Gln40Pro) rs2131061484
NM_004408.4(DNM1):c.1372C>T (p.Arg458Cys)
NM_004408.4(DNM1):c.532A>T (p.Asn178Tyr) rs1834792032
NM_004408.4(DNM1):c.958G>C (p.Asp320His) rs1588368840

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