ClinVar Miner

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

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Total variants: 113
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HGVS dbSNP
NM_006920.6(SCN1A):c.3106G>A (p.Glu1036Lys)
NM_006920.6(SCN1A):c.3128T>G (p.Leu1043Arg)
NM_006920.6(SCN1A):c.3132C>A (p.Asn1044Lys) rs797045939
NM_006920.6(SCN1A):c.3143A>T (p.Asp1048Val) rs779306054
NM_006920.6(SCN1A):c.3182A>G (p.Asp1061Gly) rs1553540263
NM_006920.6(SCN1A):c.3191A>G (p.Tyr1064Cys) rs1226603266
NM_006920.6(SCN1A):c.3335A>C (p.Asp1112Ala) rs1559192797
NM_006920.6(SCN1A):c.3368G>A (p.Ser1123Asn)
NM_006920.6(SCN1A):c.3421T>A (p.Ser1141Thr)
NM_006920.6(SCN1A):c.3506G>T (p.Cys1169Phe) rs1444741563
NM_006920.6(SCN1A):c.3518-3C>T
NM_006920.6(SCN1A):c.3523G>T (p.Val1175Leu) rs780607306
NM_006920.6(SCN1A):c.3546A>C (p.Gln1182His)
NM_006920.6(SCN1A):c.3564C>T (p.Gly1188=)
NM_006920.6(SCN1A):c.3587T>C (p.Leu1196Pro) rs121917963
NM_006920.6(SCN1A):c.3596C>T (p.Thr1199Met)
NM_006920.6(SCN1A):c.3611T>A (p.Val1204Asp) rs1559148930
NM_006920.6(SCN1A):c.3622T>A (p.Trp1208Arg) rs1553532599
NM_006920.6(SCN1A):c.3638T>C (p.Ile1213Thr) rs1553532551
NM_006920.6(SCN1A):c.3656T>C (p.Leu1219Pro)
NM_006920.6(SCN1A):c.3672+5G>A rs1060502189
NM_006920.6(SCN1A):c.3677T>C (p.Phe1226Ser) rs1553531410
NM_006920.6(SCN1A):c.3679G>C (p.Glu1227Gln) rs750364705
NM_006920.6(SCN1A):c.3685_3696del (p.Ile1229_Asp1232del)
NM_006920.6(SCN1A):c.3719T>C (p.Met1240Thr) rs749638533
NM_006920.6(SCN1A):c.3719T>G (p.Met1240Arg)
NM_006920.6(SCN1A):c.3743T>C (p.Phe1248Ser) rs398123591
NM_006920.6(SCN1A):c.3754T>C (p.Phe1252Leu) rs1559144956
NM_006920.6(SCN1A):c.3833T>C (p.Phe1278Ser) rs794727224
NM_006920.6(SCN1A):c.3853T>A (p.Leu1285Met) rs375896308
NM_006920.6(SCN1A):c.3857T>G (p.Val1286Gly)
NM_006920.6(SCN1A):c.3866C>T (p.Thr1289Ile) rs146878122
NM_006920.6(SCN1A):c.3869C>T (p.Ala1290Val) rs1553529579
NM_006920.6(SCN1A):c.3892C>G (p.Leu1298Val)
NM_006920.6(SCN1A):c.3896G>A (p.Gly1299Glu)
NM_006920.6(SCN1A):c.3910C>T (p.Leu1304Phe) rs1559140423
NM_006920.6(SCN1A):c.3922A>G (p.Arg1308Gly)
NM_006920.6(SCN1A):c.3956T>C (p.Phe1319Ser) rs1559140205
NM_006920.6(SCN1A):c.3994G>T (p.Ala1332Ser) rs796053006
NM_006920.6(SCN1A):c.4003T>C (p.Ser1335Pro) rs1553525337
NM_006920.6(SCN1A):c.4015G>C (p.Val1339Leu)
NM_006920.6(SCN1A):c.4069T>G (p.Leu1357Val) rs1553525227
NM_006920.6(SCN1A):c.4078G>T (p.Gly1360Cys)
NM_006920.6(SCN1A):c.4096A>G (p.Ile1366Val) rs762317674
NM_006920.6(SCN1A):c.4126A>G (p.Ile1376Val)
NM_006920.6(SCN1A):c.4129G>A (p.Glu1377Lys) rs775820803
NM_006920.6(SCN1A):c.4138A>C (p.Asn1380His) rs1295072436
NM_006920.6(SCN1A):c.4146T>A (p.His1382Gln) rs772400574
NM_006920.6(SCN1A):c.4183G>A (p.Ala1395Thr) rs1559127505
NM_006920.6(SCN1A):c.4183G>T (p.Ala1395Ser) rs1559127505
NM_006920.6(SCN1A):c.4201A>G (p.Lys1401Glu) rs1553524977
NM_006920.6(SCN1A):c.4205T>A (p.Val1402Glu) rs1559127385
NM_006920.6(SCN1A):c.4286C>T (p.Ala1429Val) rs1559122124
NM_006920.6(SCN1A):c.4288G>A (p.Ala1430Thr) rs121917974
NM_006920.6(SCN1A):c.4306G>C (p.Val1436Leu) rs1559119642
NM_006920.6(SCN1A):c.4342A>G (p.Met1448Val) rs1553522451
NM_006920.6(SCN1A):c.4376G>A (p.Gly1459Glu)
NM_006920.6(SCN1A):c.4418A>C (p.Asp1473Ala) rs1553522339
NM_006920.6(SCN1A):c.4479G>C (p.Gln1493His) rs1559114837
NM_006920.6(SCN1A):c.4479G>T (p.Gln1493His)
NM_006920.6(SCN1A):c.4514C>T (p.Ser1505Leu) rs139300715
NM_006920.6(SCN1A):c.4522C>A (p.Pro1508Thr) rs796053021
NM_006920.6(SCN1A):c.4523C>G (p.Pro1508Arg)
NM_006920.6(SCN1A):c.4534A>G (p.Ile1512Val) rs1474960995
NM_006920.6(SCN1A):c.4541G>A (p.Arg1514Gln) rs1559114408
NM_006920.6(SCN1A):c.4549-3C>G rs747649993
NM_006920.6(SCN1A):c.4649A>G (p.Glu1550Gly)
NM_006920.6(SCN1A):c.4664G>A (p.Ser1555Asn)
NM_006920.6(SCN1A):c.4701G>A (p.Leu1567=)
NM_006920.6(SCN1A):c.4730G>A (p.Cys1577Tyr) rs1553520982
NM_006920.6(SCN1A):c.4750C>A (p.Leu1584Ile)
NM_006920.6(SCN1A):c.4760A>T (p.Tyr1587Phe) rs377325221
NM_006920.6(SCN1A):c.4768A>G (p.Thr1590Ala)
NM_006920.6(SCN1A):c.4867C>G (p.Leu1623Val) rs1211903272
NM_006920.6(SCN1A):c.4892G>T (p.Arg1631Met)
NM_006920.6(SCN1A):c.4922G>A (p.Gly1641Glu)
NM_006920.6(SCN1A):c.4940C>T (p.Thr1647Met) rs121917922
NM_006920.6(SCN1A):c.5048A>G (p.Tyr1683Cys) rs121918777
NM_006920.6(SCN1A):c.5071G>A (p.Asp1691Asn) rs748333147
NM_006920.6(SCN1A):c.5088T>A (p.Phe1696Leu) rs796053033
NM_006920.6(SCN1A):c.5092A>G (p.Thr1698Ala)
NM_006920.6(SCN1A):c.5098G>A (p.Gly1700Ser) rs796053098
NM_006920.6(SCN1A):c.5112C>G (p.Ile1704Met) rs1559104174
NM_006920.6(SCN1A):c.5138C>T (p.Ala1713Val) rs1553520319
NM_006920.6(SCN1A):c.5192A>C (p.Asp1731Ala)
NM_006920.6(SCN1A):c.5234G>A (p.Cys1745Tyr) rs1559103294
NM_006920.6(SCN1A):c.5255_5256delinsCCCATCTG (p.Ile1752delinsThrHisLeu)
NM_006920.6(SCN1A):c.5350G>A (p.Glu1784Lys) rs121918813
NM_006920.6(SCN1A):c.5419G>A (p.Asp1807Asn)
NM_006920.6(SCN1A):c.5435T>C (p.Met1812Thr) rs1559101839
NM_006920.6(SCN1A):c.5587C>T (p.Arg1863Trp) rs796053043
NM_006920.6(SCN1A):c.5588G>A (p.Arg1863Gln) rs1060502186
NM_006920.6(SCN1A):c.5599_5601delinsAAT (p.Glu1867Asn)
NM_006920.6(SCN1A):c.5606G>A (p.Gly1869Glu) rs201905405
NM_006920.6(SCN1A):c.5606G>C (p.Gly1869Ala)
NM_006920.6(SCN1A):c.5618C>T (p.Ala1873Val)
NM_006920.6(SCN1A):c.5624G>A (p.Arg1875Gln) rs1559100385
NM_006920.6(SCN1A):c.5669T>G (p.Val1890Gly) rs1559100042
NM_006920.6(SCN1A):c.5702G>A (p.Arg1901Gln)
NM_006920.6(SCN1A):c.5744A>G (p.Tyr1915Cys) rs376669368
NM_006920.6(SCN1A):c.5754C>G (p.His1918Gln) rs371253263
NM_006920.6(SCN1A):c.5764del (p.Arg1922fs) rs587780446
NM_006920.6(SCN1A):c.5765G>T (p.Arg1922Leu) rs556893466
NM_006920.6(SCN1A):c.5771T>C (p.Val1924Ala) rs1559099002
NM_006920.6(SCN1A):c.5780C>T (p.Ala1927Val) rs915676341
NM_006920.6(SCN1A):c.5827C>T (p.Leu1943Phe)
NM_006920.6(SCN1A):c.5837A>G (p.Glu1946Gly) rs121918802
NM_006920.6(SCN1A):c.5844G>T (p.Met1948Ile) rs763997333
NM_006920.6(SCN1A):c.5899T>A (p.Ser1967Thr) rs1553519733
NM_006920.6(SCN1A):c.5929C>T (p.Arg1977Trp)
NM_006920.6(SCN1A):c.5945T>C (p.Ile1982Thr)
NM_006920.6(SCN1A):c.5955A>C (p.Lys1985Asn) rs371243629
NM_006920.6(SCN1A):c.5957A>G (p.His1986Arg)

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