ClinVar Miner

List of variants in gene SCN1A reported as uncertain significance for Severe myoclonic epilepsy in infancy

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Total variants: 14
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HGVS dbSNP
NM_001165963.4(SCN1A):c.1264G>A (p.Val422Met) rs886042528
NM_001165963.4(SCN1A):c.1423_1424delinsCT (p.Ala475Leu)
NM_001165963.4(SCN1A):c.1604G>A (p.Arg535His) rs184524479
NM_001165963.4(SCN1A):c.1898C>T (p.Ala633Val) rs1574215846
NM_001165963.4(SCN1A):c.2012T>C (p.Val671Ala) rs1574214843
NM_001165963.4(SCN1A):c.2044G>A (p.Gly682Arg)
NM_001165963.4(SCN1A):c.2177-2A>T rs1436792531
NM_001165963.4(SCN1A):c.2201G>A (p.Cys734Tyr)
NM_001165963.4(SCN1A):c.2552A>G (p.Asn851Ser) rs561912072
NM_001165963.4(SCN1A):c.2686G>A (p.Val896Ile) rs745378416
NM_001165963.4(SCN1A):c.2710T>G (p.Phe904Val)
NM_001165963.4(SCN1A):c.404T>C (p.Met135Thr) rs1574290850
NM_001165963.4(SCN1A):c.635T>C (p.Val212Ala) rs551068385
NM_006920.6(SCN1A):c.602+1G>A

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