ClinVar Miner

List of variants in gene combination LOC102724058, SCN1A reported as uncertain significance by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 45
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HGVS dbSNP
NM_001165963.1(SCN1A):c.3176A>T (p.Asp1059Val) rs779306054
NM_001165963.1(SCN1A):c.3481G>A (p.Ala1161Thr) rs201079458
NM_001165963.1(SCN1A):c.3585T>C (p.Asn1195=) rs138181528
NM_001165963.1(SCN1A):c.3776T>C (p.Phe1259Ser) rs398123591
NM_001165963.1(SCN1A):c.3866T>C (p.Phe1289Ser) rs794727224
NM_001165963.1(SCN1A):c.3899C>T (p.Thr1300Ile) rs146878122
NM_001165963.1(SCN1A):c.4129A>G (p.Ile1377Val) rs762317674
NM_001165963.1(SCN1A):c.4339-5G>A rs1057522587
NM_001165963.1(SCN1A):c.4584C>A (p.Asn1528Lys) rs398123597
NM_001165963.1(SCN1A):c.4724G>A (p.Arg1575His) rs368834365
NM_001165963.1(SCN1A):c.4793A>T (p.Tyr1598Phe) rs377325221
NM_001165963.1(SCN1A):c.4872G>A (p.Leu1624=) rs142910512
NM_001165963.1(SCN1A):c.5532A>G (p.Pro1844=) rs886043063
NM_001165963.1(SCN1A):c.5563C>T (p.Pro1855Ser) rs794727415
NM_001165963.1(SCN1A):c.5568G>A (p.Met1856Ile) rs144691638
NM_001165963.1(SCN1A):c.5639G>A (p.Gly1880Glu) rs201905405
NM_001165963.1(SCN1A):c.5951C>A (p.Pro1984His) rs146733308
NM_001165963.2(SCN1A):c.3591A>G (p.Glu1197=) rs371596040
NM_001165963.2(SCN1A):c.5988A>C (p.Lys1996Asn) rs371243629
NM_006920.4(SCN1A):c.3488C>G (p.Thr1163Ser) rs121918799
NM_006920.4(SCN1A):c.3660T>C (p.Ser1220=) rs121918746
NM_006920.4(SCN1A):c.3681A>C (p.Glu1227Asp) rs121917973
NM_006920.4(SCN1A):c.3699G>A (p.Gln1233=) rs369688121
NM_006920.4(SCN1A):c.3777A>C (p.Lys1259Asn) rs727504135
NM_006920.4(SCN1A):c.3784G>C (p.Ala1262Pro) rs398123592
NM_006920.4(SCN1A):c.3891A>T (p.Glu1297Asp) rs121917910
NM_006920.4(SCN1A):c.3977T>G (p.Val1326Gly) rs794727338
NM_006920.4(SCN1A):c.4209C>G (p.Asn1403Lys) rs398123594
NM_006920.4(SCN1A):c.4251+7G>A rs745918943
NM_006920.4(SCN1A):c.4356T>A (p.Phe1452Leu) rs794727375
NM_006920.4(SCN1A):c.4374T>A (p.Phe1458Leu) rs794727376
NM_006920.4(SCN1A):c.4413C>G (p.Ile1471Met) rs398123596
NM_006920.4(SCN1A):c.4413C>T (p.Ile1471=) rs398123596
NM_006920.4(SCN1A):c.4549A>G (p.Asn1517Asp) rs794727398
NM_006920.4(SCN1A):c.4595T>C (p.Phe1532Ser) rs121917992
NM_006920.4(SCN1A):c.4634T>A (p.Val1545Asp) rs398123598
NM_006920.4(SCN1A):c.4690C>T (p.Arg1564Cys) rs121918807
NM_006920.4(SCN1A):c.5302A>G (p.Asn1768Asp) rs794727416
NM_006920.4(SCN1A):c.5400T>C (p.Val1800=) rs762310676
NM_006920.4(SCN1A):c.5524G>C (p.Asp1842His) rs794727414
NM_006920.4(SCN1A):c.5749C>T (p.Arg1917Cys) rs121917956
NM_006920.5(SCN1A):c.3085A>C (p.Arg1029=) rs370793418
NM_006920.5(SCN1A):c.3087G>T (p.Arg1029Ser) rs1373733895
NM_006920.5(SCN1A):c.3788A>G (p.Tyr1263Cys)
NM_006920.5(SCN1A):c.5573T>C (p.Phe1858Ser) rs1553520012

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