ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome due to tenascin-X deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 79
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001365276.2(TNXB):c.7553G>A (p.Gly2518Glu) rs1009382 0.68787
NM_001365276.2(TNXB):c.7440T>C (p.Tyr2480=) rs204887 0.63524
NM_001365276.2(TNXB):c.11531-25T>C rs2856451 0.54722
NM_001365276.2(TNXB):c.7251A>G (p.Leu2417=) rs204886 0.53630
NM_001365276.2(TNXB):c.3482A>G (p.His1161Arg) rs185819 0.51248
NM_001365276.2(TNXB):c.11387-45T>C rs397948 0.46540
NM_001365276.2(TNXB):c.6696C>T (p.Asp2232=) rs204883 0.37626
NM_001365276.2(TNXB):c.6842-24C>T rs2239689 0.25409
NM_001365276.2(TNXB):c.12170A>T (p.Asn4057Ile) rs17421133 0.25264
NM_001365276.2(TNXB):c.12469+2T>C rs545719209 0.01022
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.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.8300C>T (p.Thr2767Ile) rs201649053 0.00035
NM_001365276.2(TNXB):c.211G>T (p.Val71Leu) rs201922477 0.00031
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.1480A>T (p.Thr494Ser) rs770149701 0.00015
NM_001365276.2(TNXB):c.5491G>A (p.Val1831Met) rs188124424 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.2584C>T (p.Arg862Cys) rs570806090 0.00008
NM_001365276.2(TNXB):c.3814G>A (p.Val1272Met) rs749925578 0.00006
NM_001365276.2(TNXB):c.7459C>T (p.Arg2487Cys) rs747880757 0.00005
NM_001365276.2(TNXB):c.788G>A (p.Arg263His) rs371229076 0.00004
NM_001365276.2(TNXB):c.7546G>A (p.Ala2516Thr) rs1478498254 0.00003
NM_001365276.2(TNXB):c.2461C>T (p.Arg821Ter) rs749890642 0.00002
NM_001365276.2(TNXB):c.6805C>T (p.Gln2269Ter) rs749742731 0.00002
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.4996C>T (p.Arg1666Ter) rs746016355 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.11925+2T>A
NM_001365276.2(TNXB):c.11983A>G (p.Thr3995Ala)
NM_001365276.2(TNXB):c.12161G>C (p.Arg4054Pro)
NM_001365276.2(TNXB):c.12220C>T (p.Arg4074Cys) rs587777682
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.1263_1448del (p.Thr428_Gly489del) rs2127289918
NM_001365276.2(TNXB):c.1785C>G (p.Ser595Arg)
NM_001365276.2(TNXB):c.1806C>A (p.Asp602Glu)
NM_001365276.2(TNXB):c.2116_2117dup (p.Val706_Glu707insTer) rs144556766
NM_001365276.2(TNXB):c.2301_2309del (p.Glu768_Thr770del)
NM_001365276.2(TNXB):c.2521G>A (p.Asp841Asn)
NM_001365276.2(TNXB):c.2590C>T (p.Gln864Ter) rs748223125
NM_001365276.2(TNXB):c.2747T>C (p.Val916Ala) rs2127272436
NM_001365276.2(TNXB):c.31A>T (p.Ser11Cys)
NM_001365276.2(TNXB):c.3290_3291del (p.Lys1097fs) rs764070148
NM_001365276.2(TNXB):c.3763dup (p.Arg1255fs)
NM_001365276.2(TNXB):c.3908del (p.Gln1303fs)
NM_001365276.2(TNXB):c.4111G>A (p.Glu1371Lys)
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.5362del (p.Thr1788fs) rs1778646780
NM_001365276.2(TNXB):c.5869C>T (p.His1957Tyr) rs1778570345
NM_001365276.2(TNXB):c.6320C>G (p.Ser2107Cys) rs1554321787
NM_001365276.2(TNXB):c.6493G>A (p.Gly2165Ser)
NM_001365276.2(TNXB):c.7126G>T (p.Gly2376Cys) rs764295837
NM_001365276.2(TNXB):c.7168+1G>T rs748759848
NM_001365276.2(TNXB):c.7338G>C (p.Lys2446Asn) rs2151907242
NM_001365276.2(TNXB):c.8473G>A (p.Glu2825Lys) rs759929653
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)
TNXB, 30-KB DEL

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.