ClinVar Miner

List of variants reported as uncertain significance for Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicoureteral reflux 8

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_001365276.2(TNXB):c.6544+8T>A rs150379644 0.00278
NM_001365276.2(TNXB):c.2030A>G (p.Asp677Gly) rs141190850 0.00158
NM_001365276.2(TNXB):c.2170C>T (p.Arg724Cys) rs138771398 0.00114
NM_001365276.2(TNXB):c.7750C>T (p.Arg2584Cys) rs201690494 0.00096
NM_001365276.2(TNXB):c.3226G>A (p.Asp1076Asn) rs202227084 0.00051
NM_001365276.2(TNXB):c.2783C>A (p.Ser928Tyr) rs756778483 0.00049
NM_001365276.2(TNXB):c.2083C>T (p.Arg695Trp) rs369143302 0.00043
NM_001365276.2(TNXB):c.211G>T (p.Val71Leu) rs201922477 0.00031
NM_001365276.2(TNXB):c.6211G>A (p.Gly2071Arg) rs200319996 0.00024
NM_001365276.2(TNXB):c.7946C>T (p.Thr2649Met) rs367661800 0.00024
NM_001365276.2(TNXB):c.9580G>A (p.Asp3194Asn) rs200036158 0.00017
NM_001365276.2(TNXB):c.5416T>C (p.Phe1806Leu) rs184813324 0.00016
NM_001365276.2(TNXB):c.209A>G (p.Gln70Arg) rs199581373 0.00015
NM_001365276.2(TNXB):c.8761G>A (p.Val2921Met) rs529485424 0.00013
NM_001365276.2(TNXB):c.1496G>A (p.Gly499Asp) rs771249673 0.00009
NM_001365276.2(TNXB):c.6177C>G (p.His2059Gln) rs551447544 0.00006
NM_001365276.2(TNXB):c.9212C>T (p.Ala3071Val) rs753102887 0.00005
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.8186A>G (p.Glu2729Gly) rs749055881 0.00002
NM_001365276.2(TNXB):c.8631G>C (p.Gln2877His) rs773612193 0.00002
NM_001365276.2(TNXB):c.9458C>G (p.Pro3153Arg) rs763407660 0.00002
NM_001365276.2(TNXB):c.10633G>A (p.Glu3545Lys) rs1379154957 0.00001
NM_001365276.2(TNXB):c.3034G>A (p.Val1012Ile) rs751045102 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.7783G>A (p.Glu2595Lys) rs374803743 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.3761C>G (p.Pro1254Arg) rs762130701
NM_001365276.2(TNXB):c.4010G>A (p.Arg1337His) rs61735731
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.6833G>T (p.Gly2278Val) rs1016095149
NM_001365276.2(TNXB):c.8326C>T (p.Arg2776Trp)
NM_001365276.2(TNXB):c.8542G>C (p.Gly2848Arg) rs61745355
NM_001365276.2(TNXB):c.861G>A (p.Arg287=) rs1406340228

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