ClinVar Miner

List of variants studied for Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked

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Total variants: 57
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HGVS dbSNP
NC_000023.11:g.(?_100644166)_(100671299_?)del
NC_000023.11:g.(?_100646303)_(100671007_?)dup
NM_014467.3(SRPX2):c.1011A>G (p.Gln337=) rs146920180
NM_014467.3(SRPX2):c.1028G>A (p.Arg343Gln) rs1060502322
NM_014467.3(SRPX2):c.1030C>A (p.Leu344Ile) rs149051060
NM_014467.3(SRPX2):c.1046C>G (p.Ala349Gly)
NM_014467.3(SRPX2):c.1143G>A (p.Leu381=)
NM_014467.3(SRPX2):c.1144G>A (p.Val382Met) rs148241932
NM_014467.3(SRPX2):c.117A>C (p.Glu39Asp)
NM_014467.3(SRPX2):c.1183C>T (p.Gln395Ter)
NM_014467.3(SRPX2):c.1199A>G (p.Asn400Ser) rs141292909
NM_014467.3(SRPX2):c.1221A>G (p.Gln407=) rs375935170
NM_014467.3(SRPX2):c.1229G>A (p.Arg410His) rs368571175
NM_014467.3(SRPX2):c.1238G>A (p.Arg413His) rs761966457
NM_014467.3(SRPX2):c.1255G>A (p.Val419Met) rs797046012
NM_014467.3(SRPX2):c.1276A>G (p.Ile426Val)
NM_014467.3(SRPX2):c.1289G>A (p.Arg430His) rs183378773
NM_014467.3(SRPX2):c.1293C>T (p.Tyr431=) rs138091242
NM_014467.3(SRPX2):c.1313A>T (p.Glu438Val) rs1047926579
NM_014467.3(SRPX2):c.1373G>A (p.Arg458Gln) rs146051561
NM_014467.3(SRPX2):c.160C>A (p.Arg54=) rs772122754
NM_014467.3(SRPX2):c.161G>A (p.Arg54Gln) rs761225832
NM_014467.3(SRPX2):c.174G>C (p.Trp58Cys) rs1354537844
NM_014467.3(SRPX2):c.17C>T (p.Thr6Ile) rs1556010625
NM_014467.3(SRPX2):c.202G>A (p.Glu68Lys) rs747055996
NM_014467.3(SRPX2):c.215A>C (p.Tyr72Ser) rs121918364
NM_014467.3(SRPX2):c.224A>T (p.Lys75Met) rs767072861
NM_014467.3(SRPX2):c.248T>C (p.Leu83Pro) rs141168255
NM_014467.3(SRPX2):c.257G>A (p.Arg86His) rs776691028
NM_014467.3(SRPX2):c.305C>T (p.Ser102Leu) rs1237471672
NM_014467.3(SRPX2):c.323G>A (p.Ser108Asn) rs200483534
NM_014467.3(SRPX2):c.329G>A (p.Arg110His) rs1176341753
NM_014467.3(SRPX2):c.355+8G>T rs772952088
NM_014467.3(SRPX2):c.370G>A (p.Ala124Thr)
NM_014467.3(SRPX2):c.431G>A (p.Arg144His)
NM_014467.3(SRPX2):c.449C>T (p.Ser150Phe) rs373847965
NM_014467.3(SRPX2):c.460C>G (p.His154Asp) rs73636611
NM_014467.3(SRPX2):c.481C>A (p.Arg161=) rs150552508
NM_014467.3(SRPX2):c.560C>T (p.Pro187Leu) rs1569361725
NM_014467.3(SRPX2):c.586C>A (p.Pro196Thr)
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.646G>A (p.Gly216Ser) rs758845090
NM_014467.3(SRPX2):c.693C>A (p.His231Gln) rs142719253
NM_014467.3(SRPX2):c.706G>C (p.Glu236Gln) rs754500495
NM_014467.3(SRPX2):c.725C>G (p.Thr242Ser)
NM_014467.3(SRPX2):c.732T>C (p.Tyr244=) rs1556013511
NM_014467.3(SRPX2):c.737G>A (p.Arg246Gln) rs146063801
NM_014467.3(SRPX2):c.742T>C (p.Tyr248His) rs1208754092
NM_014467.3(SRPX2):c.809C>T (p.Pro270Leu) rs148735447
NM_014467.3(SRPX2):c.840G>A (p.Ala280=) rs139377205
NM_014467.3(SRPX2):c.918T>C (p.Cys306=) rs34728871
NM_014467.3(SRPX2):c.920A>G (p.Gln307Arg) rs147757229
NM_014467.3(SRPX2):c.980A>G (p.Asn327Ser) rs121918363
NM_014467.3(SRPX2):c.981C>G (p.Asn327Lys) rs370033099
NM_014467.3(SRPX2):c.982G>A (p.Val328Ile) rs753573260
NM_014467.3(SRPX2):c.99G>A (p.Pro33=)

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