ClinVar Miner

List of variants reported as likely pathogenic for Developmental and epileptic encephalopathy, 1

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_016373.4(WWOX):c.173-6T>G rs200812468 0.00004
NM_139058.3(ARX):c.1444G>A (p.Gly482Ser) rs1468724042 0.00001
NM_001165963.4(SCN1A):c.2020G>C (p.Asp674His) rs1574214734
NM_001323289.2(CDKL5):c.415G>A (p.Glu139Lys)
NM_001330260.2(SCN8A):c.4399T>G (p.Phe1467Val)
NM_003705.5(SLC25A12):c.1490T>A (p.Ile497Asn) rs2105837590
NM_004974.4(KCNA2):c.890G>A (p.Arg297Gln) rs786205232
NM_004974.4(KCNA2):c.906T>G (p.Phe302Leu) rs764822052
NM_007327.4(GRIN1):c.1927A>G (p.Ile643Val) rs1554770243
NM_016373.4(WWOX):c.136C>T (p.His46Tyr) rs1597207871
NM_020988.3(GNAO1):c.119G>T (p.Gly40Val) rs886041766
NM_139058.3(ARX):c.1039T>G (p.Phe347Val) rs1556054888
NM_139058.3(ARX):c.1105G>A (p.Glu369Lys) rs104894746
NM_139058.3(ARX):c.1531dup (p.Ala511fs)
NM_139058.3(ARX):c.1607G>C (p.Arg536Thr) rs2048669411
NM_139058.3(ARX):c.1A>T (p.Met1Leu)
NM_139058.3(ARX):c.303_323dup (p.Ala109_Ala115dup) rs2147324381
NM_139058.3(ARX):c.306GGC[17] (p.Ala109_Ala115dup) rs387906492
NM_139058.3(ARX):c.84C>A (p.Cys28Ter) rs932485786
NM_139058.3(ARX):c.989G>A (p.Arg330His) rs886039308
NM_172107.4(KCNQ2):c.787A>G (p.Thr263Ala) rs2081188385
NM_203446.3(SYNJ1):c.1600C>T (p.Arg534Ter) rs1569075471

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