ClinVar Miner

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

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Total variants: 10
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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_020822.3(KCNT1):c.2454C>T (p.Ile818=) rs149452823 0.00026
NM_001365536.1(SCN9A):c.328T>C (p.Ser110Pro) rs201503351 0.00009
NM_000079.4(CHRNA1):c.410C>T (p.Thr137Met) rs780391418 0.00003
NM_000079.4(CHRNA1):c.710A>T (p.Asn237Ile) rs1558911753
NM_000702.4(ATP1A2):c.3027T>A (p.Tyr1009Ter) rs1570998206
NM_001242896.3(DEPDC5):c.4066del (p.Leu1356fs) rs2093486364
NM_001353921.2(ARHGEF9):c.211-5C>T rs1569481993

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