ClinVar Miner

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

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Total variants: 48
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HGVS dbSNP
NM_001165963.4(SCN1A):c.*1121T>C rs886055034
NM_001165963.4(SCN1A):c.*1125T>G
NM_001165963.4(SCN1A):c.*1144G>C
NM_001165963.4(SCN1A):c.*1152A>G
NM_001165963.4(SCN1A):c.*1297G>A
NM_001165963.4(SCN1A):c.*129T>G rs886055040
NM_001165963.4(SCN1A):c.*1325G>A
NM_001165963.4(SCN1A):c.*1366A>T
NM_001165963.4(SCN1A):c.*1482G>A rs886055033
NM_001165963.4(SCN1A):c.*1794C>T
NM_001165963.4(SCN1A):c.*1795G>A rs189183531
NM_001165963.4(SCN1A):c.*1864T>A rs150155252
NM_001165963.4(SCN1A):c.*186G>A
NM_001165963.4(SCN1A):c.*1950G>A rs773354801
NM_001165963.4(SCN1A):c.*1989C>T rs371391758
NM_001165963.4(SCN1A):c.*259T>C rs886055039
NM_001165963.4(SCN1A):c.*374T>C
NM_001165963.4(SCN1A):c.*458G>A
NM_001165963.4(SCN1A):c.*460A>C rs746164130
NM_001165963.4(SCN1A):c.*515G>T
NM_001165963.4(SCN1A):c.*553G>A
NM_001165963.4(SCN1A):c.*677G>A
NM_001165963.4(SCN1A):c.*774G>A
NM_001165963.4(SCN1A):c.*797T>C
NM_001165963.4(SCN1A):c.*912T>A rs886055036
NM_001165963.4(SCN1A):c.*926C>T
NM_001165963.4(SCN1A):c.*977T>C rs886055035
NM_001165963.4(SCN1A):c.3498G>A (p.Gln1166=) rs145410000
NM_001165963.4(SCN1A):c.3513T>C (p.Pro1171=) rs886055044
NM_001165963.4(SCN1A):c.3551-12C>T
NM_001165963.4(SCN1A):c.3573T>C (p.Cys1191=) rs750943685
NM_001165963.4(SCN1A):c.3732G>A (p.Gln1244=) rs369688121
NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp) rs121917910
NM_001165963.4(SCN1A):c.4002G>A (p.Arg1334=)
NM_001165963.4(SCN1A):c.4095C>T (p.Gly1365=) rs372749240
NM_001165963.4(SCN1A):c.4220G>A (p.Arg1407Gln)
NM_001165963.4(SCN1A):c.4557G>A (p.Pro1519=) rs368785509
NM_001165963.4(SCN1A):c.4731T>C (p.Asn1577=) rs145296488
NM_001165963.4(SCN1A):c.4872G>A (p.Leu1624=) rs142910512
NM_001165963.4(SCN1A):c.4941A>G (p.Leu1647=) rs770111331
NM_001165963.4(SCN1A):c.5501C>T (p.Ala1834Val) rs780809852
NM_001165963.4(SCN1A):c.5639G>A (p.Gly1880Glu) rs201905405
NM_001165963.4(SCN1A):c.5656C>A (p.Arg1886=) rs779614747
NM_001165963.4(SCN1A):c.5882T>C (p.Ile1961Thr) rs760676898
NM_001165963.4(SCN1A):c.5901C>A (p.Asn1967Lys)
NM_001165963.4(SCN1A):c.5992G>C (p.Glu1998Gln) rs886055041
NM_006920.6(SCN1A):c.3847-10G>C rs886055043
NM_006920.6(SCN1A):c.4548+12C>T rs886055042

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