ClinVar Miner

List of variants reported as not provided for Generalized epilepsy with febrile seizures plus, type 1 by UniProtKB/Swiss-Prot

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.80G>C (p.Arg27Thr) rs121917906 0.00006
NM_001165963.4(SCN1A):c.4096G>A (p.Val1366Ile) rs121918805 0.00002
NM_001165963.4(SCN1A):c.3925C>T (p.Leu1309Phe) rs121918801 0.00001
NM_001165963.4(SCN1A):c.4969C>T (p.Arg1657Cys) rs121918811 0.00001
NM_001165963.4(SCN1A):c.1130G>A (p.Arg377Gln) rs121917957
NM_001165963.4(SCN1A):c.1162T>C (p.Tyr388His) rs121918781
NM_001165963.4(SCN1A):c.220T>C (p.Ser74Pro) rs121917931
NM_001165963.4(SCN1A):c.2369A>G (p.Tyr790Cys) rs121918782
NM_001165963.4(SCN1A):c.2575C>T (p.Arg859Cys) rs121918784
NM_001165963.4(SCN1A):c.2624C>T (p.Thr875Met) rs121918623
NM_001165963.4(SCN1A):c.3610T>C (p.Trp1204Arg) rs121917930
NM_001165963.4(SCN1A):c.3809A>C (p.Lys1270Thr) rs121918626
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.4968C>G (p.Ile1656Met) rs121917955
NM_001165963.4(SCN1A):c.5054C>T (p.Ala1685Val) rs121918744
NM_001165963.4(SCN1A):c.5060T>C (p.Phe1687Ser) rs121917932
NM_001165963.4(SCN1A):c.5225A>G (p.Asp1742Gly) rs121918812
NM_001165963.4(SCN1A):c.5383G>A (p.Glu1795Lys) rs121918813
NM_001165963.4(SCN1A):c.5555T>C (p.Met1852Thr) rs121918783
NM_001165963.4(SCN1A):c.5569G>T (p.Val1857Leu) rs121918814
NM_001165963.4(SCN1A):c.5596G>T (p.Asp1866Tyr) rs121918815
NM_001165963.4(SCN1A):c.563A>T (p.Asp188Val) rs121917953

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