ClinVar Miner

List of variants in gene combination LOC102724058, SCN1A reported as not provided for Dravet syndrome

Included ClinVar conditions (13):
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Gene type:
ClinVar version:
Total variants: 80
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp) rs121917910 0.00070
NM_001165963.4(SCN1A):c.3714A>C (p.Glu1238Asp) rs121917973 0.00008
NM_001165963.4(SCN1A):c.4834G>A (p.Val1612Ile) rs121918808 0.00003
NM_001165963.4(SCN1A):c.3734G>A (p.Arg1245Gln) rs121917912 0.00001
NM_001165963.4(SCN1A):c.3620T>C (p.Leu1207Pro) rs121917963
NM_001165963.4(SCN1A):c.3629C>A (p.Thr1210Lys) rs121918738
NM_001165963.4(SCN1A):c.3692G>C (p.Ser1231Thr) rs121918800
NM_001165963.4(SCN1A):c.3693T>A (p.Ser1231Arg) rs121918746
NM_001165963.4(SCN1A):c.3697G>C (p.Gly1233Arg) rs121917911
NM_001165963.4(SCN1A):c.3778A>C (p.Thr1260Pro) rs121918739
NM_001165963.4(SCN1A):c.3789C>G (p.Phe1263Leu) rs121918752
NM_001165963.4(SCN1A):c.3794T>C (p.Leu1265Pro) rs121918794
NM_001165963.4(SCN1A):c.3860T>C (p.Leu1287Pro) rs121918740
NM_001165963.4(SCN1A):c.3976G>C (p.Ala1326Pro) rs121918803
NM_001165963.4(SCN1A):c.4003G>A (p.Val1335Met) rs121917960
NM_001165963.4(SCN1A):c.4064T>C (p.Leu1355Pro) rs121918776
NM_001165963.4(SCN1A):c.4073G>C (p.Trp1358Ser) rs121917961
NM_001165963.4(SCN1A):c.4101T>A (p.Asn1367Lys) rs121918760
NM_001165963.4(SCN1A):c.4168G>A (p.Val1390Met) rs121917986
NM_001165963.4(SCN1A):c.4186T>G (p.Cys1396Gly) rs121917987
NM_001165963.4(SCN1A):c.4240A>T (p.Asn1414Tyr) rs121917925
NM_001165963.4(SCN1A):c.4265A>G (p.Tyr1422Cys) rs121917913
NM_001165963.4(SCN1A):c.4277T>G (p.Leu1426Arg) rs121917944
NM_001165963.4(SCN1A):c.4297G>A (p.Gly1433Arg) rs121917908
NM_001165963.4(SCN1A):c.4298G>A (p.Gly1433Glu) rs121918741
NM_001165963.4(SCN1A):c.4300T>C (p.Trp1434Arg) rs121918789
NM_001165963.4(SCN1A):c.4321G>C (p.Ala1441Pro) rs121917974
NM_001165963.4(SCN1A):c.4348C>A (p.Gln1450Lys) rs121918806
NM_001165963.4(SCN1A):c.4349A>G (p.Gln1450Arg) rs121918790
NM_001165963.4(SCN1A):c.4352C>T (p.Pro1451Leu) rs121917945
NM_001165963.4(SCN1A):c.4381C>A (p.Leu1461Ile) rs121918772
NM_001165963.4(SCN1A):c.4385A>G (p.Tyr1462Cys) rs121917962
NM_001165963.4(SCN1A):c.4388T>C (p.Phe1463Ser) rs121917946
NM_001165963.4(SCN1A):c.4408G>T (p.Gly1470Trp) rs121917924
NM_001165963.4(SCN1A):c.4424T>C (p.Leu1475Ser) rs121917947
NM_001165963.4(SCN1A):c.4541T>C (p.Leu1514Ser) rs121918764
NM_001165963.4(SCN1A):c.4633A>G (p.Ile1545Val) rs121917975
NM_001165963.4(SCN1A):c.4708_4709del (p.Thr1570fs)
NM_001165963.4(SCN1A):c.4757G>A (p.Gly1586Glu) rs121918742
NM_001165963.4(SCN1A):c.4762T>C (p.Cys1588Arg) rs121917919
NM_001165963.4(SCN1A):c.4822G>T (p.Asp1608Tyr) rs121917915
NM_001165963.4(SCN1A):c.4831G>T (p.Val1611Phe) rs121918630
NM_001165963.4(SCN1A):c.4888G>A (p.Val1630Met) rs121917914
NM_001165963.4(SCN1A):c.4894C>T (p.Pro1632Ser) rs121918755
NM_001165963.4(SCN1A):c.4934G>A (p.Arg1645Gln) rs121917976
NM_001165963.4(SCN1A):c.4942C>T (p.Arg1648Cys) rs121918791
NM_001165963.4(SCN1A):c.4943G>A (p.Arg1648His) rs121918622
NM_001165963.4(SCN1A):c.4973C>G (p.Thr1658Arg) rs121917922
NM_001165963.4(SCN1A):c.4973C>T (p.Thr1658Met) rs121917922
NM_001165963.4(SCN1A):c.4982T>C (p.Phe1661Ser) rs121918797
NM_001165963.4(SCN1A):c.4991T>A (p.Met1664Lys) rs121918765
NM_001165963.4(SCN1A):c.5002C>G (p.Pro1668Ala) rs121917948
NM_001165963.4(SCN1A):c.5020G>C (p.Gly1674Arg) rs121918792
NM_001165963.4(SCN1A):c.5054C>A (p.Ala1685Asp) rs121918744
NM_001165963.4(SCN1A):c.5075T>C (p.Phe1692Ser) rs121918778
NM_001165963.4(SCN1A):c.5081A>G (p.Tyr1694Cys) rs121918777
NM_001165963.4(SCN1A):c.5119T>G (p.Phe1707Val) rs121917977
NM_001165963.4(SCN1A):c.5126C>T (p.Thr1709Ile) rs121918629
NM_001165963.4(SCN1A):c.5138G>A (p.Ser1713Asn) rs121918816
NM_001165963.4(SCN1A):c.5141T>G (p.Met1714Arg) rs121917949
NM_001165963.4(SCN1A):c.5146T>C (p.Cys1716Arg) rs121917926
NM_001165963.4(SCN1A):c.5162C>G (p.Thr1721Arg) rs121917978
NM_001165963.4(SCN1A):c.5176T>C (p.Trp1726Arg) rs121917979
NM_001165963.4(SCN1A):c.5246G>A (p.Gly1749Glu) rs121918798
NM_001165963.4(SCN1A):c.5266T>G (p.Cys1756Gly) rs121918809
NM_001165963.4(SCN1A):c.5285G>A (p.Gly1762Glu) rs121917950
NM_001165963.4(SCN1A):c.5318C>T (p.Ser1773Phe) rs121917951
NM_001165963.4(SCN1A):c.5339T>C (p.Met1780Thr) rs121917952
NM_001165963.4(SCN1A):c.5342A>G (p.Tyr1781Cys) rs121918779
NM_001165963.4(SCN1A):c.5346C>G (p.Ile1782Met) rs121918763
NM_001165963.4(SCN1A):c.5347G>A (p.Ala1783Thr) rs121917980
NM_001165963.4(SCN1A):c.5348C>T (p.Ala1783Val) rs121917921
NM_001165963.4(SCN1A):c.5359G>A (p.Glu1787Lys) rs121917916
NM_001165963.4(SCN1A):c.5422T>C (p.Phe1808Leu) rs121918757
NM_001165963.4(SCN1A):c.5434T>G (p.Trp1812Gly) rs121918751
NM_001165963.4(SCN1A):c.5492T>C (p.Phe1831Ser) rs121918748
NM_001165963.4(SCN1A):c.5643G>C (p.Glu1881Asp) rs121918804
NM_001165963.4(SCN1A):c.5726C>T (p.Thr1909Ile) rs121918793
NM_001165963.4(SCN1A):c.5765T>C (p.Ile1922Thr) rs121917981
NM_001165963.4(SCN1A):c.5822C>A (p.Thr1941Lys) rs756845310

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