ClinVar Miner

List of variants in gene combination LOC102724058, SCN1A reported as uncertain significance by Ambry Genetics

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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.4162G>A (p.Glu1388Lys) rs775820803 0.00003
NM_001165963.4(SCN1A):c.4612G>A (p.Val1538Ile) rs780360360 0.00003
NM_001165963.4(SCN1A):c.4834G>A (p.Val1612Ile) rs121918808 0.00003
NM_001165963.4(SCN1A):c.3161T>G (p.Leu1054Arg) rs985473996 0.00002
NM_001165963.4(SCN1A):c.3220G>A (p.Asp1074Asn) rs751514645 0.00002
NM_001165963.4(SCN1A):c.4096G>A (p.Val1366Ile) rs121918805 0.00002
NM_001165963.4(SCN1A):c.3206T>C (p.Ile1069Thr) rs1696351859 0.00001
NM_001165963.4(SCN1A):c.3475A>G (p.Ile1159Val) rs765483880 0.00001
NM_001165963.4(SCN1A):c.3629C>T (p.Thr1210Met) rs121918738 0.00001
NM_001165963.4(SCN1A):c.3719T>C (p.Ile1240Thr) rs776629634 0.00001
NM_001165963.4(SCN1A):c.3776T>C (p.Phe1259Ser) rs398123591 0.00001
NM_001165963.4(SCN1A):c.3827A>T (p.Tyr1276Phe) rs1692552933 0.00001
NM_001165963.4(SCN1A):c.4171A>C (p.Asn1391His) rs1295072436 0.00001
NM_001165963.4(SCN1A):c.4574G>A (p.Arg1525Gln) rs1559114408 0.00001
NM_001165963.4(SCN1A):c.4697G>A (p.Ser1566Asn) rs200263247 0.00001
NM_001165963.4(SCN1A):c.4793A>T (p.Tyr1598Phe) rs377325221 0.00001
NM_001165963.4(SCN1A):c.5452G>A (p.Asp1818Asn) rs747251662 0.00001
NM_001165963.4(SCN1A):c.5539C>G (p.Leu1847Val) rs1689187575 0.00001
NM_001165963.4(SCN1A):c.5777A>G (p.Tyr1926Cys) rs376669368 0.00001
NM_001165963.4(SCN1A):c.5845G>A (p.Gly1949Ser) rs1216022727 0.00001
NM_001165963.4(SCN1A):c.5978T>C (p.Ile1993Thr) rs766656231 0.00001
NM_001165963.4(SCN1A):c.5995C>T (p.Gln1999Ter) rs933130550 0.00001
NM_001165963.4(SCN1A):c.3182G>T (p.Cys1061Phe) rs1696356533
NM_001165963.4(SCN1A):c.3191A>G (p.Asn1064Ser) rs749432535
NM_001165963.4(SCN1A):c.3337G>A (p.Val1113Met) rs1331336011
NM_001165963.4(SCN1A):c.3358G>A (p.Gly1120Arg) rs749317646
NM_001165963.4(SCN1A):c.3518A>G (p.Glu1173Gly)
NM_001165963.4(SCN1A):c.3530C>G (p.Pro1177Arg) rs752060724
NM_001165963.4(SCN1A):c.3544A>G (p.Thr1182Ala) rs1388951317
NM_001165963.4(SCN1A):c.3665C>T (p.Thr1222Ile) rs1692866166
NM_001165963.4(SCN1A):c.3718_3729del (p.Ile1240_Asp1243del) rs1574052546
NM_001165963.4(SCN1A):c.4003G>A (p.Val1335Met) rs121917960
NM_001165963.4(SCN1A):c.4093G>T (p.Gly1365Cys) rs2468437011
NM_001165963.4(SCN1A):c.4250A>T (p.Asn1417Ile) rs1691038762
NM_001165963.4(SCN1A):c.4285-4A>G rs796053007
NM_001165963.4(SCN1A):c.4294A>G (p.Lys1432Glu) rs1553523204
NM_001165963.4(SCN1A):c.4391T>C (p.Val1464Ala) rs2468394678
NM_001165963.4(SCN1A):c.4412C>G (p.Ser1471Cys) rs794726809
NM_001165963.4(SCN1A):c.4550A>G (p.Lys1517Arg) rs2105461833
NM_001165963.4(SCN1A):c.4555C>A (p.Pro1519Thr) rs796053021
NM_001165963.4(SCN1A):c.5131G>A (p.Gly1711Ser) rs796053098
NM_001165963.4(SCN1A):c.5145C>G (p.Ile1715Met) rs1559104174
NM_001165963.4(SCN1A):c.5316A>G (p.Ile1772Met) rs2468333756
NM_001165963.4(SCN1A):c.5404G>A (p.Glu1802Lys) rs794726780
NM_001165963.4(SCN1A):c.5582G>A (p.Arg1861Gln) rs796053042
NM_001165963.4(SCN1A):c.5591G>C (p.Cys1864Ser) rs772165754
NM_001165963.4(SCN1A):c.5634G>C (p.Glu1878Asp) rs748090629
NM_001165963.4(SCN1A):c.5666T>G (p.Met1889Arg) rs1197551054
NM_001165963.4(SCN1A):c.5701G>T (p.Val1901Phe)
NM_001165963.4(SCN1A):c.5735G>A (p.Arg1912Gln) rs373896263
NM_001165963.4(SCN1A):c.5884G>A (p.Asp1962Asn)
NM_001165963.4(SCN1A):c.5944T>C (p.Cys1982Arg) rs2468323650

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