ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicoureteral reflux 8 by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001365276.2(TNXB):c.6544+8T>A rs150379644 0.00278
NM_001365276.2(TNXB):c.2811C>A (p.Thr937=) rs140665128 0.00166
NM_001365276.2(TNXB):c.2030A>G (p.Asp677Gly) rs141190850 0.00158
NM_001365276.2(TNXB):c.7750C>T (p.Arg2584Cys) rs201690494 0.00096
NM_001365276.2(TNXB):c.7946C>T (p.Thr2649Met) rs367661800 0.00024
NM_001365276.2(TNXB):c.5416T>C (p.Phe1806Leu) rs184813324 0.00016
NM_001365276.2(TNXB):c.8761G>A (p.Val2921Met) rs529485424 0.00013
NM_001365276.2(TNXB):c.6177C>G (p.His2059Gln) rs551447544 0.00006
NM_001365276.2(TNXB):c.2296C>T (p.Arg766Trp) rs1232589427 0.00003
NM_001365276.2(TNXB):c.2703C>T (p.Gly901=) rs759556629 0.00002
NM_001365276.2(TNXB):c.10633G>A (p.Glu3545Lys) rs1379154957 0.00001
NM_001365276.2(TNXB):c.3212C>G (p.Thr1071Arg) rs573740606 0.00001
NM_001365276.2(TNXB):c.562C>T (p.Pro188Ser) rs371794070 0.00001
NM_001365276.2(TNXB):c.7819G>A (p.Val2607Ile) rs757463918 0.00001
NM_001365276.2(TNXB):c.287T>A (p.Leu96His) rs1780503217
NM_001365276.2(TNXB):c.5723T>A (p.Phe1908Tyr) rs1030656217
NM_001365276.2(TNXB):c.5902+9T>C rs1159883762
NM_001365276.2(TNXB):c.5981C>T (p.Thr1994Ile)
NM_001365276.2(TNXB):c.861G>A (p.Arg287=) rs1406340228

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