ClinVar Miner

List of variants in gene TNXB reported by Mayo Clinic Laboratories, Mayo Clinic

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Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_001365276.2(TNXB):c.2030A>G (p.Asp677Gly) rs141190850 0.00158
NM_001365276.2(TNXB):c.5488A>C (p.Ser1830Arg) rs200519530 0.00088
NM_001365276.2(TNXB):c.2633G>A (p.Gly878Asp) rs201647307 0.00074
NM_001365276.2(TNXB):c.7856C>T (p.Pro2619Leu) rs183760368 0.00073
NM_001365276.2(TNXB):c.3322G>A (p.Val1108Met) rs121912575 0.00061
NM_001365276.2(TNXB):c.10111G>A (p.Val3371Met) rs201155046 0.00058
NM_001365276.2(TNXB):c.10151C>G (p.Ser3384Cys) rs200580526 0.00055
NM_001365276.2(TNXB):c.6367G>A (p.Asp2123Asn) rs201764050 0.00054
NM_001365276.2(TNXB):c.3226G>A (p.Asp1076Asn) rs202227084 0.00050
NM_001365276.2(TNXB):c.2783C>A (p.Ser928Tyr) rs756778483 0.00049
NM_001365276.2(TNXB):c.5938G>A (p.Ala1980Thr) rs148556332 0.00044
NM_001365276.2(TNXB):c.8990G>A (p.Arg2997His) rs41270454 0.00043
NM_001365276.2(TNXB):c.8012C>T (p.Ala2671Val) rs201037895 0.00042
NM_001365276.2(TNXB):c.2083C>T (p.Arg695Trp) rs369143302 0.00040
NM_001365276.2(TNXB):c.619G>A (p.Gly207Ser) rs139154852 0.00035
NM_001365276.2(TNXB):c.8300C>T (p.Thr2767Ile) rs201649053 0.00031
NM_001365276.2(TNXB):c.211G>T (p.Val71Leu) rs201922477 0.00029
NM_001365276.2(TNXB):c.6211G>A (p.Gly2071Arg) rs200319996 0.00024
NM_001365276.2(TNXB):c.2623G>A (p.Val875Ile) rs377480086 0.00022
NM_001365276.2(TNXB):c.6913C>T (p.Arg2305Cys) rs185625145 0.00021
NM_001365276.2(TNXB):c.1480A>T (p.Thr494Ser) rs770149701 0.00015
NM_001365276.2(TNXB):c.209A>G (p.Gln70Arg) rs199581373 0.00015
NM_001365276.2(TNXB):c.5491G>A (p.Val1831Met) rs188124424 0.00013
NM_001365276.2(TNXB):c.7307G>A (p.Gly2436Asp) rs527290986 0.00013
NM_001365276.2(TNXB):c.8536C>T (p.Arg2846Cys) rs2857010 0.00011
NM_001365276.2(TNXB):c.10369G>T (p.Val3457Leu) rs199623625 0.00010
NM_001365276.2(TNXB):c.2540G>A (p.Arg847Gln) rs200283439 0.00010
NM_001365276.2(TNXB):c.529C>T (p.Pro177Ser) rs369052118 0.00007
NM_001365276.2(TNXB):c.5780T>C (p.Ile1927Thr) rs751320202 0.00006
NM_001365276.2(TNXB):c.10121C>T (p.Ser3374Leu) rs780789365 0.00005
NM_001365276.2(TNXB):c.5252G>A (p.Gly1751Asp) rs745720911 0.00005
NM_001365276.2(TNXB):c.5777G>A (p.Arg1926His) rs748123602 0.00005
NM_001365276.2(TNXB):c.8353G>A (p.Glu2785Lys) rs771584531 0.00004
NM_001365276.2(TNXB):c.9176T>A (p.Ile3059Asn) rs1376678138 0.00004
NM_001365276.2(TNXB):c.6616A>G (p.Thr2206Ala) rs371672736 0.00003
NM_001365276.2(TNXB):c.499T>A (p.Cys167Ser) rs768737990 0.00002
NM_001365276.2(TNXB):c.5824G>A (p.Asp1942Asn) rs765461982 0.00002
NM_001365276.2(TNXB):c.5942C>T (p.Thr1981Ile) rs1230512934 0.00002
NM_001365276.2(TNXB):c.10073T>C (p.Leu3358Pro) rs933217824 0.00001
NM_001365276.2(TNXB):c.1198G>A (p.Gly400Ser) rs766056728 0.00001
NM_001365276.2(TNXB):c.29C>G (p.Ser10Cys) rs747624258 0.00001
NM_001365276.2(TNXB):c.3761C>G (p.Pro1254Arg) rs762130701 0.00001
NM_001365276.2(TNXB):c.3949C>A (p.Pro1317Thr) rs778225501 0.00001
NM_001365276.2(TNXB):c.4820T>C (p.Phe1607Ser) rs753860861 0.00001
NM_001365276.2(TNXB):c.5789A>G (p.Asp1930Gly) rs376211204 0.00001
NM_001365276.2(TNXB):c.6169G>A (p.Gly2057Ser) rs756050937 0.00001
NM_001365276.2(TNXB):c.9271C>G (p.Leu3091Val) rs748558173 0.00001
NM_001365276.2(TNXB):c.10199C>T (p.Pro3400Leu) rs777685355
NM_001365276.2(TNXB):c.10369G>A (p.Val3457Met) rs199623625
NM_001365276.2(TNXB):c.1263_1480delinsTTGGCCGGGGTACACAGGCCGGGATTGCGGCT (p.Thr428_Thr494delinsArgAspCysGlySer)
NM_001365276.2(TNXB):c.1680del (p.Gly562fs) rs1489708596
NM_001365276.2(TNXB):c.1963G>A (p.Asp655Asn)
NM_001365276.2(TNXB):c.2558C>T (p.Pro853Leu) rs759942418
NM_001365276.2(TNXB):c.270C>T (p.Gly90=)
NM_001365276.2(TNXB):c.4010G>A (p.Arg1337His) rs61735731
NM_001365276.2(TNXB):c.4861G>A (p.Val1621Met) rs372387718
NM_001365276.2(TNXB):c.5035G>T (p.Glu1679Ter)
NM_001365276.2(TNXB):c.5937dup (p.Ala1980fs)
NM_001365276.2(TNXB):c.6277G>A (p.Ala2093Thr) rs768829550
NM_001365276.2(TNXB):c.6973G>A (p.Val2325Ile) rs140304758
NM_001365276.2(TNXB):c.7396G>C (p.Val2466Leu) rs369070722
NM_001365276.2(TNXB):c.7826-7A>G
NM_001365276.2(TNXB):c.8289C>G (p.Phe2763Leu) rs542131017
NM_001365276.2(TNXB):c.8467+5G>C
NM_001365276.2(TNXB):c.8542G>C (p.Gly2848Arg) rs61745355
NM_001365276.2(TNXB):c.8645A>T (p.Asp2882Val)
NM_001365276.2(TNXB):c.9044A>G (p.Lys3015Arg) rs1777360602
NM_001365276.2(TNXB):c.9158_9159inv (p.Met3053Thr)
NM_001365276.2(TNXB):c.9757+4A>G rs1777097734

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