ClinVar Miner

List of variants reported by Neurology Department, Shenzhen Children's Hospital

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Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_000548.5(TSC2):c.2967-1G>T rs1596382055
NM_001020658.2(PUM1):c.3439C>T (p.Arg1147Trp) rs1557539450
NM_001040142.2(SCN2A):c.1108T>C (p.Phe370Leu) rs796053177
NM_001040142.2(SCN2A):c.1128_1130del (p.Leu377del) rs2105255370
NM_001040142.2(SCN2A):c.1253A>T (p.Asn418Ile) rs1553568970
NM_001040142.2(SCN2A):c.1261T>G (p.Leu421Val) rs2105255913
NM_001040142.2(SCN2A):c.1271T>C (p.Val424Ala) rs796053181
NM_001040142.2(SCN2A):c.1288G>A (p.Glu430Lys) rs1553568990
NM_001040142.2(SCN2A):c.1307T>C (p.Leu436Ser) rs1553569010
NM_001040142.2(SCN2A):c.1528_1533del (p.Gln510_Lys511del) rs2105259847
NM_001040142.2(SCN2A):c.1737C>G (p.Ser579Arg) rs2105276771
NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln) rs794727152
NM_001040142.2(SCN2A):c.2627A>G (p.Asn876Ser) rs1553579282
NM_001040142.2(SCN2A):c.2657T>C (p.Leu886Ser) rs796053118
NM_001040142.2(SCN2A):c.2674G>A (p.Val892Ile) rs121917751
NM_001040142.2(SCN2A):c.2870C>A (p.Thr957Asn) rs2105319167
NM_001040142.2(SCN2A):c.2872A>G (p.Met958Val) rs2105319172
NM_001040142.2(SCN2A):c.2995G>A (p.Glu999Lys) rs796053126
NM_001040142.2(SCN2A):c.3043G>A (p.Asp1015Asn) rs747451714
NM_001040142.2(SCN2A):c.3579_3580del (p.Trp1194fs) rs1553590192
NM_001040142.2(SCN2A):c.3631G>A (p.Glu1211Lys) rs387906684
NM_001040142.2(SCN2A):c.3936G>T (p.Arg1312Ser) rs1317894002
NM_001040142.2(SCN2A):c.3956G>A (p.Arg1319Gln)
NM_001040142.2(SCN2A):c.3956G>T (p.Arg1319Leu) rs121917753
NM_001040142.2(SCN2A):c.4015A>G (p.Asn1339Asp) rs2105373027
NM_001040142.2(SCN2A):c.4025T>C (p.Leu1342Pro) rs796053134
NM_001040142.2(SCN2A):c.4036A>G (p.Ile1346Val) rs796053135
NM_001040142.2(SCN2A):c.4223T>C (p.Val1408Ala) rs1574716488
NM_001040142.2(SCN2A):c.4303C>T (p.Arg1435Ter) rs796053138
NM_001040142.2(SCN2A):c.4364T>A (p.Ile1455Asn) rs2105384629
NM_001040142.2(SCN2A):c.4391C>T (p.Thr1464Ile) rs1701553334
NM_001040142.2(SCN2A):c.4399C>G (p.Leu1467Val) rs2105384694
NM_001040142.2(SCN2A):c.4432C>A (p.Gln1478Lys) rs1553462132
NM_001040142.2(SCN2A):c.4454G>A (p.Gly1485Asp) rs1701579057
NM_001040142.2(SCN2A):c.4498G>A (p.Ala1500Thr) rs2105385811
NM_001040142.2(SCN2A):c.4523A>T (p.Lys1508Ile) rs2105385886
NM_001040142.2(SCN2A):c.4610T>C (p.Ile1537Thr) rs1553463038
NM_001040142.2(SCN2A):c.466A>C (p.Lys156Gln) rs1553567130
NM_001040142.2(SCN2A):c.4712T>C (p.Ile1571Thr) rs2105398463
NM_001040142.2(SCN2A):c.4835C>G (p.Ala1612Gly) rs2105402019
NM_001040142.2(SCN2A):c.4886G>A (p.Arg1629His)
NM_001040142.2(SCN2A):c.4901G>T (p.Gly1634Val) rs1553463427
NM_001040142.2(SCN2A):c.4933G>A (p.Gly1645Arg) rs2105402260
NM_001040142.2(SCN2A):c.4948C>A (p.Leu1650Ile) rs1702008323
NM_001040142.2(SCN2A):c.4969C>T (p.Leu1657Phe) rs2105402331
NM_001040142.2(SCN2A):c.4972C>T (p.Pro1658Ser) rs1702009188
NM_001040142.2(SCN2A):c.4988T>C (p.Ile1663Thr) rs2105402379
NM_001040142.2(SCN2A):c.5144G>T (p.Gly1715Val) rs1702015681
NM_001040142.2(SCN2A):c.5198del (p.Pro1733fs) rs2105402711
NM_001040142.2(SCN2A):c.5237G>A (p.Cys1746Tyr) rs2105402821
NM_001040142.2(SCN2A):c.5317G>A (p.Ala1773Thr) rs796053162
NM_001040142.2(SCN2A):c.5558A>G (p.His1853Arg) rs2105403389
NM_001040142.2(SCN2A):c.5640A>C (p.Glu1880Asp) rs2105403544
NM_001040142.2(SCN2A):c.5645G>A (p.Arg1882Gln) rs794727444
NM_001040142.2(SCN2A):c.605C>T (p.Ala202Val)
NM_001040142.2(SCN2A):c.640T>C (p.Ser214Pro) rs1057517854
NM_001040142.2(SCN2A):c.668G>A (p.Arg223Gln) rs121917752
NM_001040142.2(SCN2A):c.707C>G (p.Thr236Ser) rs2105247122
NM_001040142.2(SCN2A):c.752T>C (p.Val251Ala) rs2105247262
NM_001040142.2(SCN2A):c.781G>A (p.Val261Met) rs1057520413
NM_001040142.2(SCN2A):c.807G>T (p.Leu269Phe) rs2105247416
NM_138459.5(NUS1):c.791+6T>G

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