ClinVar Miner

List of variants studied for Severe myoclonic epilepsy in infancy by Baylor Genetics

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.4723C>T (p.Arg1575Cys) rs121918807 0.00003
NM_001165963.4(SCN1A):c.4628T>C (p.Phe1543Ser) rs121917992 0.00001
NM_001165963.4(SCN1A):c.5912A>G (p.Glu1971Gly) rs771936735 0.00001
NM_001165963.4(SCN1A):c.1028+1del rs886041980
NM_001165963.4(SCN1A):c.1261G>A (p.Val421Met) rs781507889
NM_001165963.4(SCN1A):c.1264G>A (p.Val422Met) rs886042528
NM_001165963.4(SCN1A):c.1662+1G>C rs794726749
NM_001165963.4(SCN1A):c.2792G>T (p.Arg931Leu) rs794726718
NM_001165963.4(SCN1A):c.3451T>C (p.Ser1151Pro) rs1693190884
NM_001165963.4(SCN1A):c.3512C>T (p.Pro1171Leu) rs1559152754
NM_001165963.4(SCN1A):c.3953T>C (p.Leu1318Pro) rs1692164539
NM_001165963.4(SCN1A):c.4547C>A (p.Ser1516Ter) rs139300715
NM_001165963.4(SCN1A):c.5351T>C (p.Val1784Ala) rs1057518671
NM_001165963.4(SCN1A):c.986G>C (p.Gly329Ala) rs779184118
NM_001365536.1(SCN9A):c.1079A>G (p.Gln360Arg) rs1698156445

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