ClinVar Miner

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

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Total variants: 81
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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.7251A>G (p.Leu2417=) rs204886 0.53630
NM_001365276.2(TNXB):c.3482A>G (p.His1161Arg) rs185819 0.51248
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.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.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.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.6293dup (p.Glu2100fs) rs764867655 0.00002
NM_001365276.2(TNXB):c.6805C>T (p.Gln2269Ter) rs749742731 0.00002
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.5052C>A (p.Asp1684Glu) rs776883744 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.10442dup (p.Gln3482fs)
NM_001365276.2(TNXB):c.1136del (p.Gly379fs)
NM_001365276.2(TNXB):c.1263_1448del (p.Thr428_Gly489del) rs2127289918
NM_001365276.2(TNXB):c.1685G>A (p.Gly562Asp)
NM_001365276.2(TNXB):c.1785C>G (p.Ser595Arg)
NM_001365276.2(TNXB):c.1806C>A (p.Asp602Glu)
NM_001365276.2(TNXB):c.197G>C (p.Gly66Ala)
NM_001365276.2(TNXB):c.2086dup (p.Glu696fs)
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.3372dup (p.Lys1125fs)
NM_001365276.2(TNXB):c.3763dup (p.Arg1255fs)
NM_001365276.2(TNXB):c.3907C>T (p.Gln1303Ter)
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.510dup (p.Thr171fs)
NM_001365276.2(TNXB):c.5336G>A (p.Gly1779Glu)
NM_001365276.2(TNXB):c.5362del (p.Thr1788fs) rs1778646780
NM_001365276.2(TNXB):c.5451_5476del (p.Val1819fs)
NM_001365276.2(TNXB):c.5869C>T (p.His1957Tyr) rs1778570345
NM_001365276.2(TNXB):c.6221-2_6221-1delinsCA
NM_001365276.2(TNXB):c.6320C>G (p.Ser2107Cys) rs1554321787
NM_001365276.2(TNXB):c.6349_6352del (p.Val2117fs) rs754439905
NM_001365276.2(TNXB):c.6400G>A (p.Gly2134Arg) rs763024425
NM_001365276.2(TNXB):c.6493G>A (p.Gly2165Ser)
NM_001365276.2(TNXB):c.7056_7063del (p.His2352fs)
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.7505del (p.Asp2502fs)
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.9589del (p.Thr3197fs)
NM_001365276.2(TNXB):c.9664G>C (p.Gly3222Arg)
NM_001365276.2(TNXB):c.9668del (p.Gly3223fs)
TNXB, 30-KB DEL

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