ClinVar Miner

List of variants in gene SRPX2 studied for childhood-onset epilepsy syndrome

Included ClinVar conditions (91):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 91
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HGVS dbSNP gnomAD frequency
NM_014467.3(SRPX2):c.356-38G>A rs2022475 0.83087
NM_014467.3(SRPX2):c.163+12T>C rs73555462 0.02331
NM_014467.3(SRPX2):c.460C>G (p.His154Asp) rs73636611 0.00298
NM_014467.3(SRPX2):c.1030C>A (p.Leu344Ile) rs149051060 0.00145
NM_014467.3(SRPX2):c.1373G>A (p.Arg458Gln) rs146051561 0.00133
NM_014467.3(SRPX2):c.840G>A (p.Ala280=) rs139377205 0.00118
NM_014467.3(SRPX2):c.481C>A (p.Arg161=) rs150552508 0.00101
NM_014467.3(SRPX2):c.918T>C (p.Cys306=) rs34728871 0.00080
NM_014467.3(SRPX2):c.1293C>T (p.Tyr431=) rs138091242 0.00050
NM_014467.3(SRPX2):c.980A>G (p.Asn327Ser) rs121918363 0.00041
NM_014467.3(SRPX2):c.809C>T (p.Pro270Leu) rs148735447 0.00030
NM_014467.3(SRPX2):c.737G>A (p.Arg246Gln) rs146063801 0.00026
NM_014467.3(SRPX2):c.323G>A (p.Ser108Asn) rs200483534 0.00023
NM_014467.3(SRPX2):c.693C>A (p.His231Gln) rs142719253 0.00022
NM_014467.3(SRPX2):c.1218-6C>T rs370981134 0.00019
NM_014467.3(SRPX2):c.449C>T (p.Ser150Phe) rs373847965 0.00019
NM_014467.3(SRPX2):c.624G>A (p.Pro208=) rs139514583 0.00018
NM_014467.3(SRPX2):c.1221A>G (p.Gln407=) rs375935170 0.00017
NM_014467.3(SRPX2):c.920A>G (p.Gln307Arg) rs147757229 0.00017
NM_014467.3(SRPX2):c.564C>T (p.His188=) rs149317696 0.00015
NM_014467.3(SRPX2):c.1199A>G (p.Asn400Ser) rs141292909 0.00011
NM_014467.3(SRPX2):c.893G>A (p.Arg298His) rs369663551 0.00011
NM_014467.3(SRPX2):c.257G>A (p.Arg86His) rs776691028 0.00010
NM_014467.3(SRPX2):c.981C>G (p.Asn327Lys) rs370033099 0.00009
NM_014467.3(SRPX2):c.248T>C (p.Leu83Pro) rs141168255 0.00007
NM_014467.3(SRPX2):c.160C>A (p.Arg54=) rs772122754 0.00005
NM_014467.3(SRPX2):c.221C>T (p.Pro74Leu) rs773892997 0.00005
NM_014467.3(SRPX2):c.224A>T (p.Lys75Met) rs767072861 0.00005
NM_014467.3(SRPX2):c.882C>T (p.Gly294=) rs748732647 0.00005
NM_014467.3(SRPX2):c.1144G>A (p.Val382Met) rs148241932 0.00004
NM_014467.3(SRPX2):c.369C>T (p.His123=) rs370296491 0.00004
NM_014467.3(SRPX2):c.1011A>G (p.Gln337=) rs146920180 0.00003
NM_014467.3(SRPX2):c.1288C>T (p.Arg430Cys) rs757158053 0.00003
NM_014467.3(SRPX2):c.215A>C (p.Tyr72Ser) rs121918364 0.00003
NM_014467.3(SRPX2):c.305C>T (p.Ser102Leu) rs1237471672 0.00003
NM_014467.3(SRPX2):c.959C>T (p.Ala320Val) rs780126596 0.00003
NM_014467.3(SRPX2):c.982G>A (p.Val328Ile) rs753573260 0.00003
NM_014467.3(SRPX2):c.99G>A (p.Pro33=) rs766670891 0.00003
NM_014467.3(SRPX2):c.1229G>A (p.Arg410His) rs368571175 0.00002
NM_014467.3(SRPX2):c.1276A>G (p.Ile426Val) rs756623285 0.00002
NM_014467.3(SRPX2):c.1289G>A (p.Arg430His) rs183378773 0.00002
NM_014467.3(SRPX2):c.329G>A (p.Arg110His) rs1176341753 0.00002
NM_014467.3(SRPX2):c.553C>T (p.Arg185Cys) rs370080258 0.00002
NM_014467.3(SRPX2):c.554G>T (p.Arg185Leu) rs768629864 0.00002
NM_014467.3(SRPX2):c.648T>C (p.Gly216=) rs751951110 0.00002
NM_014467.3(SRPX2):c.961+1G>A rs1303998333 0.00002
NM_014467.3(SRPX2):c.1028G>A (p.Arg343Gln) rs1060502322 0.00001
NM_014467.3(SRPX2):c.1133T>C (p.Ile378Thr) rs1483904597 0.00001
NM_014467.3(SRPX2):c.1238G>A (p.Arg413His) rs761966457 0.00001
NM_014467.3(SRPX2):c.1255G>A (p.Val419Met) rs797046012 0.00001
NM_014467.3(SRPX2):c.161G>A (p.Arg54Gln) rs761225832 0.00001
NM_014467.3(SRPX2):c.174G>C (p.Trp58Cys) rs1354537844 0.00001
NM_014467.3(SRPX2):c.202G>A (p.Glu68Lys) rs747055996 0.00001
NM_014467.3(SRPX2):c.370G>A (p.Ala124Thr) rs746716311 0.00001
NM_014467.3(SRPX2):c.371C>T (p.Ala124Val) rs1277274875 0.00001
NM_014467.3(SRPX2):c.431G>A (p.Arg144His) rs758942073 0.00001
NM_014467.3(SRPX2):c.57G>A (p.Pro19=) rs192241917 0.00001
NM_014467.3(SRPX2):c.646G>A (p.Gly216Ser) rs758845090 0.00001
NM_014467.3(SRPX2):c.742T>C (p.Tyr248His) rs1208754092 0.00001
NC_000023.11:g.(?_100646303)_(100671007_?)dup
NM_014467.3(SRPX2):c.1046C>G (p.Ala349Gly) rs2083208096
NM_014467.3(SRPX2):c.1129A>G (p.Thr377Ala) rs1355036934
NM_014467.3(SRPX2):c.112_163+10dup rs2083150642
NM_014467.3(SRPX2):c.1143G>A (p.Leu381=) rs2083214837
NM_014467.3(SRPX2):c.117A>C (p.Glu39Asp) rs762469858
NM_014467.3(SRPX2):c.1183C>T (p.Gln395Ter) rs771849296
NM_014467.3(SRPX2):c.118G>A (p.Val40Ile)
NM_014467.3(SRPX2):c.1311C>T (p.Pro437=) rs2083222587
NM_014467.3(SRPX2):c.1313A>T (p.Glu438Val) rs1047926579
NM_014467.3(SRPX2):c.1365C>T (p.Thr455=) rs1602727943
NM_014467.3(SRPX2):c.1396T>G (p.Ter466Gly)
NM_014467.3(SRPX2):c.17C>T (p.Thr6Ile) rs1556010625
NM_014467.3(SRPX2):c.207C>T (p.Ala69=)
NM_014467.3(SRPX2):c.355+8G>T rs772952088
NM_014467.3(SRPX2):c.366C>T (p.Cys122=) rs2147648869
NM_014467.3(SRPX2):c.49C>G (p.Leu17Val) rs1422524189
NM_014467.3(SRPX2):c.560C>T (p.Pro187Leu) rs1569361725
NM_014467.3(SRPX2):c.586C>A (p.Pro196Thr) rs1398023125
NM_014467.3(SRPX2):c.602C>T (p.Ala201Val) rs915881767
NM_014467.3(SRPX2):c.605G>A (p.Arg202Gln) rs200784551
NM_014467.3(SRPX2):c.656C>G (p.Thr219Ser) rs924461236
NM_014467.3(SRPX2):c.659+8_659+22del rs1378393239
NM_014467.3(SRPX2):c.659G>C (p.Arg220Thr)
NM_014467.3(SRPX2):c.706G>C (p.Glu236Gln) rs754500495
NM_014467.3(SRPX2):c.723C>T (p.Tyr241=)
NM_014467.3(SRPX2):c.725C>G (p.Thr242Ser) rs2083202209
NM_014467.3(SRPX2):c.732T>C (p.Tyr244=) rs1556013511
NM_014467.3(SRPX2):c.928C>T (p.Arg310Cys) rs758448998
NM_014467.3(SRPX2):c.975C>T (p.Asn325=) rs2083207723
NM_014467.3(SRPX2):c.981C>T (p.Asn327=) rs370033099
NM_014467.3(SRPX2):c.99G>T (p.Pro33=) rs766670891

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