ClinVar Miner

List of variants in gene combination LOC102724058, SCN1A reported as pathogenic for Generalized epilepsy with febrile seizures plus, type 2

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Total variants: 17
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HGVS dbSNP
NM_001165963.4(SCN1A):c.3610T>C (p.Trp1204Arg) rs121917930
NM_001165963.4(SCN1A):c.3762T>A (p.Tyr1254Ter)
NM_001165963.4(SCN1A):c.3809A>C (p.Lys1270Thr) rs121918626
NM_001165963.4(SCN1A):c.3985C>T (p.Arg1329Ter) rs796053004
NM_001165963.4(SCN1A):c.4057G>C (p.Val1353Leu) rs121917954
NM_001165963.4(SCN1A):c.4283T>C (p.Val1428Ala) rs121918627
NM_001165963.4(SCN1A):c.4331C>A (p.Ser1444Tyr)
NM_001165963.4(SCN1A):c.4831G>T (p.Val1611Phe) rs121918630
NM_001165963.4(SCN1A):c.4913T>A (p.Ile1638Asn)
NM_001165963.4(SCN1A):c.4943G>A (p.Arg1648His) rs121918622
NM_001165963.4(SCN1A):c.4968C>G (p.Ile1656Met) rs121917955
NM_001165963.4(SCN1A):c.5126C>T (p.Thr1709Ile) rs121918629
NM_001165963.4(SCN1A):c.5388T>A (p.Ser1796Arg)
NM_001165963.4(SCN1A):c.5674C>T (p.Arg1892Ter) rs794726739
NM_001165963.4(SCN1A):c.5797del (p.Arg1933fs) rs587780446
NM_006920.6(SCN1A):c.2583_3173delinsAAGTTGGCAAAA (p.Trp862_Ile1058delinsSerTrpGlnAsn)
NM_006920.6(SCN1A):c.3991G>T (p.Gly1331Ter)

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