ClinVar Miner

List of variants reported as pathogenic for developmental and epileptic encephalopathy by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

Included ClinVar conditions (219):
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Total variants: 24
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 2q24.3(chr2:166872248-167334216)
NM_001032221.6(STXBP1):c.1651C>T (p.Arg551Cys) rs796053373
NM_001040142.2(SCN2A):c.3631G>A (p.Glu1211Lys) rs387906684
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001165963.4(SCN1A):c.1060G>C (p.Ala354Pro) rs1698022280
NM_001165963.4(SCN1A):c.1702C>T (p.Arg568Ter) rs886039430
NM_001165963.4(SCN1A):c.2244G>A (p.Trp748Ter) rs1553543340
NM_001165963.4(SCN1A):c.2593C>T (p.Arg865Ter) rs794726697
NM_001165963.4(SCN1A):c.429_430del (p.Phe144fs) rs1699147493
NM_001165963.4(SCN1A):c.474-1G>A rs1698962501
NM_001165963.4(SCN1A):c.4933C>T (p.Arg1645Ter) rs794726759
NM_001165963.4(SCN1A):c.5564C>A (p.Pro1855His)
NM_001184880.2(PCDH19):c.1019A>G (p.Asn340Ser) rs796052839
NM_001184880.2(PCDH19):c.1153C>G (p.Gln385Glu) rs1928405180
NM_001184880.2(PCDH19):c.1153C>T (p.Gln385Ter) rs1928405180
NM_001323289.2(CDKL5):c.38T>C (p.Phe13Ser) rs1922605766
NM_001323289.2(CDKL5):c.463+5G>A rs886042303
NM_001323289.2(CDKL5):c.665del (p.Thr222fs)
NM_015076.5(CDK19):c.94T>C (p.Tyr32His) rs1236246272
NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln) rs397515407
NM_031844.3(HNRNPU):c.1060_1061del (p.Asp353_Ile354insTer) rs2102987471
NM_139058.3(ARX):c.1430del (p.Ile477fs)
NM_139058.3(ARX):c.1472del (p.Leu491fs) rs2147318790
NM_152296.5(ATP1A3):c.2324C>T (p.Pro775Leu) rs886041396

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