ClinVar Miner

List of variants in gene SRPX2 studied for X-linked syndromic intellectual disability

Included ClinVar conditions (165):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 34
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HGVS dbSNP
NC_000023.10:g.(?_99899163)_(99926296_?)del
NM_014467.3(SRPX2):c.1011A>G (p.Gln337=)
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.1144G>A (p.Val382Met) rs148241932
NM_014467.3(SRPX2):c.1199A>G (p.Asn400Ser) rs141292909
NM_014467.3(SRPX2):c.1238G>A (p.Arg413His)
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)
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)
NM_014467.3(SRPX2):c.215A>C (p.Tyr72Ser) rs121918364
NM_014467.3(SRPX2):c.305C>T (p.Ser102Leu) rs1237471672
NM_014467.3(SRPX2):c.329G>A (p.Arg110His) rs1176341753
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.646G>A (p.Gly216Ser) rs758845090
NM_014467.3(SRPX2):c.693C>A (p.His231Gln) rs142719253
NM_014467.3(SRPX2):c.706G>C (p.Glu236Gln)
NM_014467.3(SRPX2):c.732T>C (p.Tyr244=) rs1556013511
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.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>T (p.Pro33=) rs766670891

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