ClinVar Miner

List of variants in gene SCN1A studied for Familial hemiplegic migraine type 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2

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Total variants: 15
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HGVS dbSNP
NM_001165963.4(SCN1A):c.1212A>G (p.Val404=) rs7580482
NM_001165963.4(SCN1A):c.1343T>C (p.Ile448Thr) rs755962326
NM_001165963.4(SCN1A):c.136G>A (p.Glu46Lys) rs769582667
NM_001165963.4(SCN1A):c.1702C>T (p.Arg568Ter) rs886039430
NM_001165963.4(SCN1A):c.1739G>A (p.Arg580Gln) rs544692790
NM_001165963.4(SCN1A):c.1803C>T (p.Asn601=) rs139403702
NM_001165963.4(SCN1A):c.1837C>T (p.Arg613Ter) rs398123585
NM_001165963.4(SCN1A):c.251A>G (p.Tyr84Cys) rs121917964
NM_001165963.4(SCN1A):c.2792G>A (p.Arg931His) rs794726718
NM_001165963.4(SCN1A):c.2947-41C>T rs7601520
NM_001165963.4(SCN1A):c.379C>G (p.His127Asp) rs148442069
NM_001165963.4(SCN1A):c.661C>G (p.Leu221Val) rs886039456
NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter) rs121918624
NM_001165963.4(SCN1A):c.677C>T (p.Thr226Met) rs121917984
NM_006920.6(SCN1A):c.602+1G>A

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