ClinVar Miner

List of variants studied for epilepsy by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

Included ClinVar conditions (435):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_001353921.2(ARHGEF9):c.1322-49T>G rs56401522 0.03802
NM_001353921.2(ARHGEF9):c.*146G>C rs782358245 0.00311
NM_001353921.2(ARHGEF9):c.31-29459T>C rs145382128 0.00231
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp) rs145843073 0.00063
NM_001040142.2(SCN2A):c.1376A>C (p.Glu459Ala) rs184769423 0.00032
NM_000079.4(CHRNA1):c.319C>T (p.Arg107Cys) rs140268343 0.00021
NM_001077365.2(POMT1):c.789G>C (p.Leu263Phe) rs201073763 0.00021
NM_020822.3(KCNT1):c.2454C>T (p.Ile818=) rs149452823 0.00019
NM_000817.3(GAD1):c.80C>A (p.Thr27Lys) rs77655188 0.00015
NM_001365536.1(SCN9A):c.328T>C (p.Ser110Pro) rs201503351 0.00009
NM_000742.4(CHRNA2):c.202C>T (p.Arg68Trp) rs376970816 0.00005
NM_000079.4(CHRNA1):c.410C>T (p.Thr137Met) rs780391418 0.00003
NM_020822.3(KCNT1):c.3072C>T (p.Arg1024=) rs141695705 0.00003
NM_198904.4(GABRG2):c.406C>T (p.Arg136Ter) rs796052504 0.00003
NM_000817.3(GAD1):c.1246A>G (p.Ile416Val) rs749599647 0.00002
NM_001037.5(SCN1B):c.85G>A (p.Glu29Lys) rs767384862 0.00001
NM_001130438.3(SPTAN1):c.3133C>T (p.Arg1045Trp) rs794727356 0.00001
NM_007254.4(PNKP):c.1389T>G (p.Phe463Leu) rs763116781 0.00001
NM_172107.4(KCNQ2):c.1627G>A (p.Val543Met) rs794727134 0.00001
NM_000079.4(CHRNA1):c.710A>T (p.Asn237Ile) rs1558911753
NM_000702.4(ATP1A2):c.3027T>A (p.Tyr1009Ter) rs1570998206
NM_000744.7(CHRNA4):c.851C>T (p.Ser284Leu) rs28931591
NM_001134407.3(GRIN2A):c.1382T>A (p.Ile461Asn) rs1567337914
NM_001134407.3(GRIN2A):c.364G>T (p.Val122Phe) rs376125239
NM_001165963.4(SCN1A):c.1889G>C (p.Arg630Pro) rs145670933
NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter) rs121918624
NM_001184880.2(PCDH19):c.489_490delinsAT (p.Gln164Ter) rs1555985639
NM_001242896.3(DEPDC5):c.2512C>T (p.Arg838Ter) rs1569067939
NM_001242896.3(DEPDC5):c.4066del (p.Leu1356fs) rs2093486364
NM_001323289.2(CDKL5):c.378C>G (p.Cys126Trp) rs1569213910
NM_001330260.2(SCN8A):c.297A>C (p.Arg99Ser) rs1565885985
NM_001353921.2(ARHGEF9):c.211-5C>T rs1569481993
NM_001482.3(GATM):c.367G>A (p.Ala123Thr) rs1566840902
NM_014795.4(ZEB2):c.3267A>C (p.Glu1089Asp) rs1553960775
NM_172107.4(KCNQ2):c.1658G>C (p.Arg553Pro) rs118192234
NM_172107.4(KCNQ2):c.629G>A (p.Arg210His) rs886041262
NM_172107.4(KCNQ2):c.775G>A (p.Asp259Asn) rs777257591

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