ClinVar Miner

List of variants reported as uncertain significance for Severe myoclonic epilepsy in infancy by Baylor Genetics

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Total variants: 8
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HGVS dbSNP
NM_001165963.4(SCN1A):c.1264G>A (p.Val422Met) rs886042528
NM_001165963.4(SCN1A):c.3451T>C (p.Ser1151Pro)
NM_001165963.4(SCN1A):c.3512C>T (p.Pro1171Leu) rs1559152754
NM_001165963.4(SCN1A):c.3953T>C (p.Leu1318Pro)
NM_001165963.4(SCN1A):c.4628T>C (p.Phe1543Ser) rs121917992
NM_001165963.4(SCN1A):c.4723C>T (p.Arg1575Cys) rs121918807
NM_001165963.4(SCN1A):c.5912A>G (p.Glu1971Gly) rs771936735
NM_001365536.1(SCN9A):c.1079A>G (p.Gln360Arg)

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