ClinVar Miner

List of variants in gene combination LOC102724058, SCN1A reported as pathogenic by OMIM

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.4495T>C (p.Phe1499Leu) rs121918632 0.00001
NC_000002.12:g.(?_165985812)_(166002754_166009718)del
NM_001165963.4(SCN1A):c.3609del (p.Gln1203fs) rs1574061044
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.4002+1195_4284+346delinsTATT
NM_001165963.4(SCN1A):c.4033C>T (p.Pro1345Ser) rs1574006857
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.4465C>A (p.Gln1489Lys) rs121918628
NM_001165963.4(SCN1A):c.4467G>C (p.Gln1489His) rs121918633
NM_001165963.4(SCN1A):c.4831G>T (p.Val1611Phe) rs121918630
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.5006C>A (p.Ala1669Glu) rs397514458
NM_001165963.4(SCN1A):c.5126C>T (p.Thr1709Ile) rs121918629

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