ClinVar Miner

List of variants reported as likely pathogenic for neonatal-onset developmental and epileptic encephalopathy by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys) rs376712059 0.00002
NM_024818.6(UBA5):c.684G>A (p.Ala228=) rs1313071575 0.00001
NM_000812.4(GABRB1):c.757C>T (p.Pro253Ser) rs2110051822
NM_000812.4(GABRB1):c.854C>A (p.Thr285Lys) rs1728584859
NM_000812.4(GABRB1):c.860C>T (p.Thr287Ile) rs886039818
NM_000836.4(GRIN2D):c.1345G>A (p.Asp449Asn) rs1569064110
NM_000836.4(GRIN2D):c.1999G>A (p.Val667Ile) rs886040861
NM_000836.4(GRIN2D):c.2023G>A (p.Ala675Thr) rs1970995171
NM_000836.4(GRIN2D):c.2033C>A (p.Ala678Asp) rs2147455922
NM_000836.4(GRIN2D):c.2533A>G (p.Met845Val) rs2147475435
NM_000836.4(GRIN2D):c.3812C>T (p.Ser1271Leu) rs1971341588
NM_001127222.2(CACNA1A):c.1321C>T (p.Gln441Ter)
NM_001127222.2(CACNA1A):c.2006G>A (p.Trp669Ter) rs1555757537
NM_001127222.2(CACNA1A):c.2039_2040del (p.Gln680fs) rs1064794262
NM_001127222.2(CACNA1A):c.3478_3479del (p.Ala1160fs) rs2057404744
NM_001127222.2(CACNA1A):c.4174G>T (p.Val1392Leu) rs794727411
NM_001127222.2(CACNA1A):c.4866+1G>T rs2144725957
NM_001127222.2(CACNA1A):c.5408A>C (p.Asn1803Thr)
NM_001127222.2(CACNA1A):c.548C>T (p.Ala183Val)
NM_001330260.2(SCN8A):c.2266G>A (p.Asp756Asn)
NM_001330260.2(SCN8A):c.2518C>T (p.Leu840Phe) rs1942779292
NM_001330260.2(SCN8A):c.2620G>T (p.Ala874Ser) rs1057524820
NM_001330260.2(SCN8A):c.2675T>G (p.Val892Gly) rs863225295
NM_001330260.2(SCN8A):c.2857T>C (p.Cys953Arg)
NM_001330260.2(SCN8A):c.2901+1G>C rs1942832440
NM_001330260.2(SCN8A):c.3967G>A (p.Ala1323Thr) rs794727361
NM_001330260.2(SCN8A):c.4774G>A (p.Val1592Ile) rs587780454
NM_001330260.2(SCN8A):c.4850G>T (p.Arg1617Leu) rs587777721
NM_001330260.2(SCN8A):c.4963G>A (p.Gly1655Ser)
NM_001330260.2(SCN8A):c.718A>T (p.Ile240Phe) rs1064793923
NM_003705.5(SLC25A12):c.225del (p.Glu76fs) rs1685036155
NM_004408.4(DNM1):c.1102G>A (p.Glu368Lys) rs1835087040
NM_004408.4(DNM1):c.1577T>C (p.Leu526Pro)
NM_004408.4(DNM1):c.532A>T (p.Asn178Tyr) rs1834792032
NM_004974.4(KCNA2):c.1214C>T (p.Pro405Leu)
NM_004974.4(KCNA2):c.1216G>T (p.Val406Phe) rs1553181257
NM_004974.4(KCNA2):c.881G>A (p.Arg294His) rs886041761
NM_004974.4(KCNA2):c.914T>C (p.Phe305Ser)
NM_004975.4(KCNB1):c.1237G>A (p.Val413Ile) rs1984243311
NM_004975.4(KCNB1):c.2130del (p.Cys710fs)
NM_004975.4(KCNB1):c.917G>A (p.Arg306His) rs1984262011
NM_016373.4(WWOX):c.107+2_107+5del rs1555532979

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