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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 111

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HGVS	dbSNP	gnomAD frequency
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser)	rs121918799	0.00159
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.4723C>T (p.Arg1575Cys)	rs121918807	0.00003
NM_001165963.4(SCN1A):c.4834G>A (p.Val1612Ile)	rs121918808	0.00003
NM_001165963.4(SCN1A):c.4096G>A (p.Val1366Ile)	rs121918805	0.00002
NM_001165963.4(SCN1A):c.5801C>T (p.Thr1934Ile)	rs1205848223	0.00002
NM_001165963.4(SCN1A):c.3734G>A (p.Arg1245Gln)	rs121917912	0.00001
NM_001165963.4(SCN1A):c.4495T>C (p.Phe1499Leu)	rs121918632	0.00001
NM_001165963.4(SCN1A):c.4969C>T (p.Arg1657Cys)	rs121918811	0.00001
NM_001165963.4(SCN1A):c.3610T>A (p.Trp1204Arg)
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.3801G>C (p.Met1267Ile)
NM_001165963.4(SCN1A):c.3818C>T (p.Ala1273Val)	rs794726841
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.4057G>C (p.Val1353Leu)	rs121917954
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.4243T>A (p.Phe1415Ile)
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.4465C>A (p.Gln1489Lys)	rs121918628
NM_001165963.4(SCN1A):c.4467G>T (p.Gln1489His)
NM_001165963.4(SCN1A):c.4493T>C (p.Ile1498Thr)
NM_001165963.4(SCN1A):c.4494C>G (p.Ile1498Met)
NM_001165963.4(SCN1A):c.4498A>G (p.Met1500Val)
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.4759G>A (p.Glu1587Lys)
NM_001165963.4(SCN1A):c.4762T>C (p.Cys1588Arg)	rs121917919
NM_001165963.4(SCN1A):c.4786C>T (p.Arg1596Cys)	rs121917993
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.4871T>C (p.Leu1624Pro)	rs1689377026
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.4907G>A (p.Arg1636Gln)	rs121917995
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.4946_4947delinsAA (p.Leu1649Gln)
NM_001165963.4(SCN1A):c.4968C>G (p.Ile1656Met)	rs121917955
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.4981T>C (p.Phe1661Leu)
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.5009T>G (p.Leu1670Trp)
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.5054C>T (p.Ala1685Val)	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.5293T>C (p.Phe1765Leu)	rs1689251604
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.5354T>G (p.Ile1785Ser)
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.5555T>C (p.Met1852Thr)	rs121918783
NM_001165963.4(SCN1A):c.5596G>T (p.Asp1866Tyr)	rs121918815
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.5768A>G (p.Gln1923Arg)
NM_001165963.4(SCN1A):c.5779A>G (p.Arg1927Gly)
NM_001165963.4(SCN1A):c.5822C>A (p.Thr1941Lys)	rs756845310

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