ClinVar Miner

List of variants reported for Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicoureteral reflux 8 by Fulgent Genetics, Fulgent Genetics

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Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_001365276.2(TNXB):c.*163G>A rs1058152 0.54891
NM_001365276.2(TNXB):c.11387-9T>C rs2894233 0.01611
NM_001365276.2(TNXB):c.6024A>G (p.Thr2008=) rs61744966 0.01027
NM_001365276.2(TNXB):c.10607-19C>A rs773540524 0.01008
NM_001365276.2(TNXB):c.113G>A (p.Arg38Gln) rs149502087 0.00876
NM_001365276.2(TNXB):c.4484C>T (p.Thr1495Ile) rs6910390 0.00842
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.2385A>G (p.Thr795=) rs185461070 0.00300
NM_001365276.2(TNXB):c.12058+15G>A rs762839811 0.00275
NM_001365276.2(TNXB):c.7704T>C (p.Val2568=) rs370919547 0.00243
NM_001365276.2(TNXB):c.12592G>A (p.Ala4198Thr) rs756508366 0.00233
NM_001365276.2(TNXB):c.909C>G (p.Gly303=) rs111244635 0.00214
NM_001365276.2(TNXB):c.7051G>A (p.Gly2351Arg) rs201638755 0.00166
NM_001365276.2(TNXB):c.2170C>T (p.Arg724Cys) rs138771398 0.00114
NM_001365276.2(TNXB):c.10713C>T (p.Ser3571=) rs758424441 0.00072
NM_001365276.2(TNXB):c.86G>A (p.Arg29Gln) rs184878358 0.00060
NM_001365276.2(TNXB):c.7802C>T (p.Pro2601Leu) rs575866552 0.00053
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.4209C>T (p.Thr1403=) rs148934769 0.00047
NM_001365276.2(TNXB):c.9762C>T (p.Pro3254=) rs190855421 0.00047
NM_001365276.2(TNXB):c.2083C>T (p.Arg695Trp) rs369143302 0.00043
NM_001365276.2(TNXB):c.8468-1G>A rs200718357 0.00039
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.12058+6T>G rs761600175 0.00022
NM_001365276.2(TNXB):c.9580G>A (p.Asp3194Asn) rs200036158 0.00017
NM_001365276.2(TNXB):c.7413T>C (p.Pro2471=) rs375764263 0.00016
NM_001365276.2(TNXB):c.209A>G (p.Gln70Arg) rs199581373 0.00015
NM_001365276.2(TNXB):c.7417C>T (p.Arg2473Cys) rs373029180 0.00014
NM_001365276.2(TNXB):c.6303A>G (p.Leu2101=) rs761030884 0.00012
NM_001365276.2(TNXB):c.12210+5G>A rs4959085 0.00011
NM_001365276.2(TNXB):c.1496G>A (p.Gly499Asp) rs771249673 0.00009
NM_001365276.2(TNXB):c.9212C>T (p.Ala3071Val) rs753102887 0.00005
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.3034G>A (p.Val1012Ile) rs751045102 0.00001
NM_001365276.2(TNXB):c.7783G>A (p.Glu2595Lys) rs374803743 0.00001
NM_001365276.2(TNXB):c.12156C>G (p.Arg4052=) rs6457479
NM_001365276.2(TNXB):c.2516-17_2516-15del rs199775035
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.5442C>G (p.Asp1814Glu) rs181025235
NM_001365276.2(TNXB):c.6833G>T (p.Gly2278Val) rs1016095149
NM_001365276.2(TNXB):c.8542G>C (p.Gly2848Arg) rs61745355

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