ClinVar Miner

List of variants in gene combination LOC102724058, SCN1A reported as uncertain significance for Severe myoclonic epilepsy in infancy

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Total variants: 26
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HGVS dbSNP
NM_001165963.4(SCN1A):c.3451T>C (p.Ser1151Pro)
NM_001165963.4(SCN1A):c.3512C>T (p.Pro1171Leu) rs1559152754
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser) rs121918799
NM_001165963.4(SCN1A):c.3714A>C (p.Glu1238Asp) rs121917973
NM_001165963.4(SCN1A):c.3749C>T (p.Thr1250Met) rs140731963
NM_001165963.4(SCN1A):c.3844A>G (p.Asn1282Asp)
NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp) rs121917910
NM_001165963.4(SCN1A):c.3953T>C (p.Leu1318Pro)
NM_001165963.4(SCN1A):c.4007T>G (p.Val1336Gly)
NM_001165963.4(SCN1A):c.4324G>T (p.Val1442Phe)
NM_001165963.4(SCN1A):c.4339-21C>G
NM_001165963.4(SCN1A):c.4396T>C (p.Phe1466Leu)
NM_001165963.4(SCN1A):c.4409G>A (p.Gly1470Glu) rs1573984236
NM_001165963.4(SCN1A):c.4427A>C (p.Asn1476Thr)
NM_001165963.4(SCN1A):c.4547C>T (p.Ser1516Leu) rs139300715
NM_001165963.4(SCN1A):c.4556C>T (p.Pro1519Leu) rs372425457
NM_001165963.4(SCN1A):c.4570C>T (p.Pro1524Ser)
NM_001165963.4(SCN1A):c.4628T>C (p.Phe1543Ser) rs121917992
NM_001165963.4(SCN1A):c.4723C>T (p.Arg1575Cys) rs121918807
NM_001165963.4(SCN1A):c.4855A>G (p.Met1619Val) rs373967247
NM_001165963.4(SCN1A):c.5066T>C (p.Met1689Thr)
NM_001165963.4(SCN1A):c.5351T>A (p.Val1784Asp) rs1057518671
NM_001165963.4(SCN1A):c.5501C>T (p.Ala1834Val) rs780809852
NM_001165963.4(SCN1A):c.5681T>C (p.Met1894Thr) rs562208324
NM_001165963.4(SCN1A):c.5783G>A (p.Arg1928His) rs1477444505
NM_001165963.4(SCN1A):c.5912A>G (p.Glu1971Gly) rs771936735

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