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: 47
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.3714A>C (p.Glu1238Asp) rs121917973 0.00008
NM_001165963.4(SCN1A):c.4556C>T (p.Pro1519Leu) rs372425457 0.00004
NM_001165963.4(SCN1A):c.4547C>T (p.Ser1516Leu) rs139300715 0.00003
NM_001165963.4(SCN1A):c.4723C>T (p.Arg1575Cys) rs121918807 0.00003
NM_001165963.4(SCN1A):c.4096G>A (p.Val1366Ile) rs121918805 0.00002
NM_001165963.4(SCN1A):c.5978T>C (p.Ile1993Thr) rs766656231 0.00002
NM_001165963.4(SCN1A):c.4628T>C (p.Phe1543Ser) rs121917992 0.00001
NM_001165963.4(SCN1A):c.5783G>A (p.Arg1928His) rs1477444505 0.00001
NM_001165963.4(SCN1A):c.5912A>G (p.Glu1971Gly) rs771936735 0.00001
NM_001165963.4(SCN1A):c.3091T>C (p.Tyr1031His)
NM_001165963.4(SCN1A):c.3094G>A (p.Glu1032Lys)
NM_001165963.4(SCN1A):c.3290T>G (p.Ile1097Ser)
NM_001165963.4(SCN1A):c.3451T>C (p.Ser1151Pro) rs1693190884
NM_001165963.4(SCN1A):c.3512C>T (p.Pro1171Leu) rs1559152754
NM_001165963.4(SCN1A):c.3697G>A (p.Gly1233Ser)
NM_001165963.4(SCN1A):c.3844A>G (p.Asn1282Asp) rs1692549700
NM_001165963.4(SCN1A):c.3879+5G>T rs796052999
NM_001165963.4(SCN1A):c.3953T>C (p.Leu1318Pro) rs1692164539
NM_001165963.4(SCN1A):c.4002+2420G>A
NM_001165963.4(SCN1A):c.4002+2543A>G
NM_001165963.4(SCN1A):c.4003-603T>C
NM_001165963.4(SCN1A):c.4007T>G (p.Val1336Gly) rs1691097432
NM_001165963.4(SCN1A):c.4244T>G (p.Phe1415Cys)
NM_001165963.4(SCN1A):c.4270T>C (p.Ser1424Pro)
NM_001165963.4(SCN1A):c.4324G>T (p.Val1442Phe) rs1690574155
NM_001165963.4(SCN1A):c.4327G>A (p.Asp1443Asn) rs1573991676
NM_001165963.4(SCN1A):c.4338+5G>C rs796053011
NM_001165963.4(SCN1A):c.4339-21C>G rs1690353601
NM_001165963.4(SCN1A):c.4396T>C (p.Phe1466Leu) rs2105476313
NM_001165963.4(SCN1A):c.4409G>A (p.Gly1470Glu) rs1573984236
NM_001165963.4(SCN1A):c.4427A>C (p.Asn1476Thr) rs2105476040
NM_001165963.4(SCN1A):c.4460A>G (p.Asn1487Ser)
NM_001165963.4(SCN1A):c.4570C>T (p.Pro1524Ser) rs143088184
NM_001165963.4(SCN1A):c.4712C>T (p.Thr1571Ile)
NM_001165963.4(SCN1A):c.4775T>C (p.Leu1592Pro) rs1689684958
NM_001165963.4(SCN1A):c.4876G>C (p.Glu1626Gln)
NM_001165963.4(SCN1A):c.4901_4920delinsCGTCCGAGTGATTCG (p.Leu1634_Leu1640delinsProSerGluTer)
NM_001165963.4(SCN1A):c.5003C>T (p.Pro1668Leu)
NM_001165963.4(SCN1A):c.5066T>C (p.Met1689Thr)
NM_001165963.4(SCN1A):c.5141T>C (p.Met1714Thr) rs121917949
NM_001165963.4(SCN1A):c.5158A>G (p.Ile1720Val)
NM_001165963.4(SCN1A):c.5273_5277delinsT (p.Asn1758fs)
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.5599_5605del (p.Ile1867fs) rs2105425501
NM_001165963.4(SCN1A):c.5611_5617del (p.Phe1871fs)
NM_001165963.4(SCN1A):c.5681T>C (p.Met1894Thr) rs562208324

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