ClinVar Miner

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

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 86
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HGVS dbSNP gnomAD frequency
NM_001365276.2(TNXB):c.12469+2T>C rs545719209 0.01022
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.6649C>A (p.Pro2217Thr) rs142409885 0.00139
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.5488A>C (p.Ser1830Arg) rs200519530 0.00088
NM_001365276.2(TNXB):c.11227G>A (p.Asp3743Asn) rs1254121532 0.00082
NM_001365276.2(TNXB):c.7856C>T (p.Pro2619Leu) rs183760368 0.00073
NM_001365276.2(TNXB):c.3488G>A (p.Gly1163Glu) rs185207099 0.00067
NM_001365276.2(TNXB):c.3322G>A (p.Val1108Met) rs121912575 0.00061
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.8300C>T (p.Thr2767Ile) rs201649053 0.00035
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.8432G>A (p.Arg2811Gln) rs200522966 0.00024
NM_001365276.2(TNXB):c.9661G>A (p.Val3221Met) rs367685759 0.00019
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.9637A>G (p.Arg3213Gly) rs377386505 0.00013
NM_001365276.2(TNXB):c.12180C>G (p.Cys4060Trp) rs56345590 0.00010
NM_001365276.2(TNXB):c.1496G>A (p.Gly499Asp) rs771249673 0.00009
NM_001365276.2(TNXB):c.2584C>T (p.Arg862Cys) rs570806090 0.00008
NM_001365276.2(TNXB):c.3814G>A (p.Val1272Met) rs749925578 0.00006
NM_001365276.2(TNXB):c.6177C>G (p.His2059Gln) rs551447544 0.00006
NM_001365276.2(TNXB):c.7459C>T (p.Arg2487Cys) rs747880757 0.00005
NM_001365276.2(TNXB):c.9212C>T (p.Ala3071Val) rs753102887 0.00005
NM_001365276.2(TNXB):c.788G>A (p.Arg263His) rs371229076 0.00004
NM_001365276.2(TNXB):c.2296C>T (p.Arg766Trp) rs1232589427 0.00003
NM_001365276.2(TNXB):c.7546G>A (p.Ala2516Thr) rs1478498254 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.10789C>T (p.Pro3597Ser) rs764559504 0.00001
NM_001365276.2(TNXB):c.1739A>G (p.Tyr580Cys) rs761561411 0.00001
NM_001365276.2(TNXB):c.3002C>T (p.Pro1001Leu) rs768607753 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.4996C>T (p.Arg1666Ter) rs746016355 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.8389G>T (p.Gly2797Trp) rs747680383 0.00001
NM_001365276.1:c.(?_8144)_(9109_?)del
NM_001365276.2(TNXB):c.11983A>G (p.Thr3995Ala)
NM_001365276.2(TNXB):c.12161G>C (p.Arg4054Pro)
NM_001365276.2(TNXB):c.12224G>A (p.Arg4075His) rs201510617
NM_001365276.2(TNXB):c.12376G>A (p.Asp4126Asn)
NM_001365276.2(TNXB):c.12520G>A (p.Asp4174Asn) rs200523717
NM_001365276.2(TNXB):c.12525dup (p.Asn4176fs) rs2151879527
NM_001365276.2(TNXB):c.12530G>A (p.Ser4177Asn) rs199953230
NM_001365276.2(TNXB):c.1785C>G (p.Ser595Arg)
NM_001365276.2(TNXB):c.1806C>A (p.Asp602Glu)
NM_001365276.2(TNXB):c.2301_2309del (p.Glu768_Thr770del)
NM_001365276.2(TNXB):c.2521G>A (p.Asp841Asn)
NM_001365276.2(TNXB):c.2747T>C (p.Val916Ala) rs2127272436
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.4168C>G (p.Leu1390Val)
NM_001365276.2(TNXB):c.4220A>G (p.Lys1407Arg)
NM_001365276.2(TNXB):c.4861G>A (p.Val1621Met) rs372387718
NM_001365276.2(TNXB):c.4883G>A (p.Arg1628Gln) rs778225485
NM_001365276.2(TNXB):c.4958G>A (p.Arg1653Gln) rs772454700
NM_001365276.2(TNXB):c.5336G>A (p.Gly1779Glu)
NM_001365276.2(TNXB):c.5723T>A (p.Phe1908Tyr) rs1030656217
NM_001365276.2(TNXB):c.5869C>T (p.His1957Tyr) rs1778570345
NM_001365276.2(TNXB):c.5902+9T>C rs1159883762
NM_001365276.2(TNXB):c.5981C>T (p.Thr1994Ile)
NM_001365276.2(TNXB):c.6320C>G (p.Ser2107Cys) rs1554321787
NM_001365276.2(TNXB):c.6493G>A (p.Gly2165Ser)
NM_001365276.2(TNXB):c.6833G>T (p.Gly2278Val) rs1016095149
NM_001365276.2(TNXB):c.7126G>T (p.Gly2376Cys) rs764295837
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
NM_001365276.2(TNXB):c.9072C>A (p.His3024Gln) rs61729739
NM_001365276.2(TNXB):c.9226C>T (p.Leu3076Phe)
NM_001365276.2(TNXB):c.9664G>C (p.Gly3222Arg)

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