ClinVar Miner

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

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Total variants: 34
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HGVS dbSNP
NM_001165963.4(SCN1A):c.3430-2A>G
NM_001165963.4(SCN1A):c.3734G>A (p.Arg1245Gln) rs121917912
NM_001165963.4(SCN1A):c.3752T>G (p.Met1251Arg) rs749638533
NM_001165963.4(SCN1A):c.3925C>T (p.Leu1309Phe) rs121918801
NM_001165963.4(SCN1A):c.4033C>T (p.Pro1345Ser) rs1574006857
NM_001165963.4(SCN1A):c.4048G>C (p.Val1350Leu) rs1574006637
NM_001165963.4(SCN1A):c.4052T>C (p.Leu1351Pro) rs1553525313
NM_001165963.4(SCN1A):c.4267C>G (p.Leu1423Val) rs1060502190
NM_001165963.4(SCN1A):c.4414T>C (p.Phe1472Leu)
NM_001165963.4(SCN1A):c.4453A>G (p.Asn1485Asp) rs1553522331
NM_001165963.4(SCN1A):c.4556C>G (p.Pro1519Arg) rs372425457
NM_001165963.4(SCN1A):c.4631A>G (p.Asp1544Gly) rs1573964628
NM_001165963.4(SCN1A):c.4807G>T (p.Gly1603Ter) rs761333438
NM_001165963.4(SCN1A):c.4964G>C (p.Gly1655Ala) rs1553520439
NM_001165963.4(SCN1A):c.4970G>A (p.Arg1657His) rs121917994
NM_001165963.4(SCN1A):c.4991T>C (p.Met1664Thr) rs121918765
NM_001165963.4(SCN1A):c.5039T>A (p.Val1680Asp) rs1553520380
NM_001165963.4(SCN1A):c.5167T>C (p.Ser1723Pro) rs1553520320
NM_001165963.4(SCN1A):c.5174G>A (p.Gly1725Asp) rs1553520318
NM_001165963.4(SCN1A):c.5288_5289delinsCCCATCTG (p.Ile1763delinsThrHisLeu) rs1573948129
NM_001165963.4(SCN1A):c.5293T>C (p.Phe1765Leu)
NM_001165963.4(SCN1A):c.5318C>A (p.Ser1773Tyr) rs121917951
NM_001165963.4(SCN1A):c.5318C>T (p.Ser1773Phe) rs121917951
NM_001165963.4(SCN1A):c.5597A>G (p.Asp1866Gly) rs1553520029
NM_001165963.4(SCN1A):c.5719_5721ACT[2] (p.Thr1909del) rs1553519902
NM_001165963.4(SCN1A):c.5767C>A (p.Gln1923Lys) rs1553519865
NM_001165963.4(SCN1A):c.5781_5782delinsTG (p.Arg1927_Arg1928delinsSerGly)
NM_006920.6(SCN1A):c.4007T>C (p.Ile1336Thr)
NM_006920.6(SCN1A):c.4211T>C (p.Phe1404Ser)
NM_006920.6(SCN1A):c.4395C>A (p.Asn1465Lys) rs1573984110
NM_006920.6(SCN1A):c.4530_4548+39del rs1559114202
NM_006920.6(SCN1A):c.4829T>C (p.Leu1610Pro) rs1573953706
NM_006920.6(SCN1A):c.5146G>T (p.Asp1716Tyr)
NM_006920.6(SCN1A):c.5723C>G (p.Ala1908Gly)

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