ClinVar Miner

List of variants in gene TNXB reported as benign for Ehlers-Danlos syndrome

Included ClinVar conditions (71):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 61
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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.2761T>G (p.Ser921Ala) rs204900 0.14952
NM_001365276.2(TNXB):c.7483G>A (p.Gly2495Ser) rs2269429 0.12889
NM_001365276.2(TNXB):c.7168+5G>A rs204885 0.04539
NM_001365276.2(TNXB):c.5713G>A (p.Glu1905Lys) rs17207923 0.03984
NM_001365276.2(TNXB):c.9631C>G (p.Arg3211Gly) rs41270450 0.03853
NM_001365276.2(TNXB):c.4241G>A (p.Arg1414Gln) rs9267799 0.03318
NM_001365276.2(TNXB):c.7377C>T (p.Gly2459=) rs59619270 0.02517
NM_001365276.2(TNXB):c.4332C>T (p.His1444=) rs61998168 0.02515
NM_001365276.2(TNXB):c.9641G>T (p.Gly3214Val) rs9267795 0.02152
NM_001365276.2(TNXB):c.9050A>G (p.Lys3017Arg) rs17207895 0.02019
NM_001365276.2(TNXB):c.1734C>T (p.Asp578=) rs41270458 0.01827
NM_001365276.2(TNXB):c.3380A>G (p.Lys1127Arg) rs61910712 0.01812
NM_001365276.2(TNXB):c.5823C>T (p.Ser1941=) rs116094055 0.01719
NM_001365276.2(TNXB):c.517G>A (p.Ala173Thr) rs61746206 0.01620
NM_001365276.2(TNXB):c.3191G>A (p.Arg1064His) rs61995676 0.01344
NM_001365276.2(TNXB):c.5679G>A (p.Thr1893=) rs115612382 0.01326
NM_001365276.2(TNXB):c.3419G>A (p.Gly1140Asp) rs149995364 0.01305
NM_001365276.2(TNXB):c.9672G>A (p.Leu3224=) rs61740331 0.01104
NM_001365276.2(TNXB):c.4848G>A (p.Gly1616=) rs190967484 0.01043
NM_001365276.2(TNXB):c.6024A>G (p.Thr2008=) rs61744966 0.01027
NM_001365276.2(TNXB):c.8132T>C (p.Ile2711Thr) rs28361051 0.01025
NM_001365276.2(TNXB):c.9849G>A (p.Thr3283=) rs147118175 0.00874
NM_001365276.2(TNXB):c.8601C>T (p.Pro2867=) rs61740712 0.00867
NM_001365276.2(TNXB):c.4484C>T (p.Thr1495Ile) rs6910390 0.00842
NM_001365276.2(TNXB):c.10554C>T (p.Tyr3518=) rs115065067 0.00690
NM_001365276.2(TNXB):c.7297G>A (p.Val2433Ile) rs17207902 0.00594
NM_001365276.2(TNXB):c.2373C>T (p.Ser791=) rs112581362 0.00587
NM_001365276.2(TNXB):c.1469G>A (p.Arg490Gln) rs118086587 0.00554
NM_001365276.2(TNXB):c.6348C>T (p.Thr2116=) rs143840297 0.00419
NM_001365276.2(TNXB):c.1837A>G (p.Ser613Gly) rs61744970 0.00418
NM_001365276.2(TNXB):c.6683T>A (p.Phe2228Tyr) rs3749960 0.00418
NM_001365276.2(TNXB):c.2367G>A (p.Gly789=) rs117182156 0.00399
NM_001365276.2(TNXB):c.3445+8A>G rs201624002 0.00326
NM_001365276.2(TNXB):c.4562C>T (p.Ala1521Val) rs146120469 0.00321
NM_001365276.2(TNXB):c.6811G>C (p.Val2271Leu) rs140770834 0.00309
NM_001365276.2(TNXB):c.10060C>T (p.Pro3354Ser) rs140530599 0.00296
NM_001365276.2(TNXB):c.6544+8T>A rs150379644 0.00278
NM_001365276.2(TNXB):c.7704T>C (p.Val2568=) rs370919547 0.00243
NM_001365276.2(TNXB):c.909C>G (p.Gly303=) rs111244635 0.00214
NM_001365276.2(TNXB):c.8598C>T (p.Val2866=) rs141752970 0.00202
NM_001365276.2(TNXB):c.5937C>T (p.Thr1979=) rs3749963 0.00200
NM_001365276.2(TNXB):c.9438G>A (p.Thr3146=) rs202162469 0.00200
NM_001365276.2(TNXB):c.6513C>T (p.Arg2171=) rs117336748 0.00198
NM_001365276.2(TNXB):c.8594T>C (p.Met2865Thr) rs373158501 0.00198
NM_001365276.2(TNXB):c.9643G>A (p.Glu3215Lys) rs2075563 0.00198
NM_001365276.2(TNXB):c.4885G>A (p.Glu1629Lys) rs78493656 0.00197
NM_001365276.2(TNXB):c.7051G>A (p.Gly2351Arg) rs201638755 0.00166
NM_001365276.2(TNXB):c.86G>A (p.Arg29Gln) rs184878358 0.00060
NM_001365276.2(TNXB):c.6608G>A (p.Arg2203Lys) rs150876029 0.00049
NM_001365276.2(TNXB):c.9661G>A (p.Val3221Met) rs367685759 0.00019
NM_001365276.2(TNXB):c.2516-17_2516-15del rs199775035
NM_001365276.2(TNXB):c.6902C>A (p.Pro2301His) rs2269428
NM_001365276.2(TNXB):c.8542G>A (p.Gly2848Arg) rs61745355
NM_001365276.2(TNXB):c.8845C>A (p.Pro2949Thr) rs149492184
NM_001365276.2(TNXB):c.9440-12_9440-10del rs199828189

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