ClinVar Miner

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

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Total variants: 64
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HGVS dbSNP
NM_001165963.1(SCN1A):c.4002+1953_4221del
NM_001165963.2(SCN1A):c.4003-11_4036del rs1559128532
NM_006920.6(SCN1A):c.3049del (p.Arg1017fs) rs1553540389
NM_006920.6(SCN1A):c.3071_3077del (p.Gln1024fs)
NM_006920.6(SCN1A):c.3073C>T (p.Gln1025Ter) rs542420576
NM_006920.6(SCN1A):c.3196_3229dup (p.Thr1077fs)
NM_006920.6(SCN1A):c.3310_3311del (p.Val1104fs) rs1559193050
NM_006920.6(SCN1A):c.3398_3399del (p.Lys1133fs) rs1553534296
NM_006920.6(SCN1A):c.3517+2T>C
NM_006920.6(SCN1A):c.3578G>A (p.Trp1193Ter) rs1559149128
NM_006920.6(SCN1A):c.3598dup (p.Cys1200fs) rs1060502182
NM_006920.6(SCN1A):c.3602_3603delinsA (p.Phe1201fs)
NM_006920.6(SCN1A):c.3604C>T (p.Arg1202Ter) rs794726710
NM_006920.6(SCN1A):c.3672+1G>T
NM_006920.6(SCN1A):c.3683_3684AT[6] (p.Asp1232fs) rs796053072
NM_006920.6(SCN1A):c.3750C>G (p.Tyr1250Ter)
NM_006920.6(SCN1A):c.3752_3764del (p.Ile1251fs)
NM_006920.6(SCN1A):c.3779G>A (p.Trp1260Ter)
NM_006920.6(SCN1A):c.3789T>G (p.Tyr1263Ter) rs1060502188
NM_006920.6(SCN1A):c.3847-1G>T rs1559140855
NM_006920.6(SCN1A):c.3847-2A>G rs794726816
NM_006920.6(SCN1A):c.3938dup (p.Arg1314fs) rs1559140306
NM_006920.6(SCN1A):c.3964del (p.Gly1321_Met1322insTer) rs1553529426
NM_006920.6(SCN1A):c.3969+2T>C rs1559140110
NM_006920.6(SCN1A):c.4024G>T (p.Val1342Phe)
NM_006920.6(SCN1A):c.4028G>T (p.Cys1343Phe) rs1057521537
NM_006920.6(SCN1A):c.4076C>T (p.Ala1359Val) rs1553525210
NM_006920.6(SCN1A):c.4135G>A (p.Val1379Met) rs121917986
NM_006920.6(SCN1A):c.4141_4153del (p.Asn1381fs) rs1553525036
NM_006920.6(SCN1A):c.4144_4147delinsTG (p.His1382fs)
NM_006920.6(SCN1A):c.4186C>T (p.Arg1396Ter) rs398123593
NM_006920.6(SCN1A):c.4203del (p.Lys1401_Val1402insTer) rs1060502183
NM_006920.6(SCN1A):c.4234_4235CT[1] (p.Ser1413fs)
NM_006920.6(SCN1A):c.4249G>T (p.Val1417Phe) rs878854263
NM_006920.6(SCN1A):c.4251+1G>T rs1553524865
NM_006920.6(SCN1A):c.4300A>T (p.Arg1434Ter) rs1553523142
NM_006920.6(SCN1A):c.4306-1G>A rs1553522517
NM_006920.6(SCN1A):c.4319C>T (p.Pro1440Leu) rs121917945
NM_006920.6(SCN1A):c.4411dup (p.Ile1471fs)
NM_006920.6(SCN1A):c.4429del (p.Gln1477fs) rs1553522321
NM_006920.6(SCN1A):c.4444-1C>T rs1553521567
NM_006920.6(SCN1A):c.4508T>G (p.Leu1503Ter)
NM_006920.6(SCN1A):c.4548+5G>C rs1559114303
NM_006920.6(SCN1A):c.4655_4659del (p.Asp1552fs) rs1559110846
NM_006920.6(SCN1A):c.4729T>C (p.Cys1577Arg) rs121917919
NM_006920.6(SCN1A):c.4753C>T (p.Arg1585Cys) rs121917993
NM_006920.6(SCN1A):c.4754G>A (p.Arg1585His) rs575368466
NM_006920.6(SCN1A):c.4789G>T (p.Asp1597Tyr) rs121917915
NM_006920.6(SCN1A):c.4873C>T (p.Arg1625Ter) rs199727342
NM_006920.6(SCN1A):c.4874G>A (p.Arg1625Gln) rs121917995
NM_006920.6(SCN1A):c.4943T>C (p.Leu1648Pro) rs1559105368
NM_006920.6(SCN1A):c.4945_4946CT[1] (p.Phe1650fs) rs1559105301
NM_006920.6(SCN1A):c.4977_4980del (p.Phe1660fs) rs794726754
NM_006920.6(SCN1A):c.5189G>C (p.Cys1730Ser)
NM_006920.6(SCN1A):c.5230G>T (p.Asp1744Tyr) rs927722314
NM_006920.6(SCN1A):c.5236G>C (p.Gly1746Arg) rs1553520227
NM_006920.6(SCN1A):c.5366del (p.Leu1789fs)
NM_006920.6(SCN1A):c.5462_5463insT (p.Ala1822fs) rs1559101585
NM_006920.6(SCN1A):c.5499_5502AAAC[1] (p.Lys1835fs) rs794726726
NM_006920.6(SCN1A):c.5623C>T (p.Arg1875Ter) rs779614747
NM_006920.6(SCN1A):c.5641C>T (p.Arg1881Ter) rs794726739
NM_006920.6(SCN1A):c.5693C>T (p.Thr1898Ile) rs121918793
NM_006920.6(SCN1A):c.5721del (p.Ala1908fs) rs1553519872
NM_006920.6(SCN1A):c.5732T>G (p.Ile1911Ser) rs121917981

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