ClinVar Miner

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

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.*721A>G rs4667859 0.99675
NM_001165963.4(SCN1A):c.3199G>A (p.Ala1067Thr) rs2298771 0.73872
NM_001165963.4(SCN1A):c.*1739C>T rs1813502 0.70050
NM_001165963.4(SCN1A):c.*1025T>C rs10497275 0.13322
NM_001165963.4(SCN1A):c.*1961C>T rs7577411 0.08473
NM_001165963.4(SCN1A):c.*1693A>G rs7591522 0.03977
NM_001165963.4(SCN1A):c.3723T>C (p.Tyr1241=) rs36031496 0.03789
NM_001165963.4(SCN1A):c.*1224G>A rs77088538 0.01643
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser) rs121918799 0.00159

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