ClinVar Miner

List of variants in gene TNXB reported as likely pathogenic

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_001365276.2(TNXB):c.6074A>T (p.Asp2025Val) rs201397168 0.00056
NM_001365276.2(TNXB):c.1650_1651del (p.Glu552fs) rs761635725 0.00002
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.10476_10479dup (p.Pro3494fs) rs1582337456 0.00001
NM_001365276.2(TNXB):c.4957C>T (p.Arg1653Ter) rs201184519 0.00001
NM_001365276.2(TNXB):c.7826-1G>C rs200357005 0.00001
GRCh37/hg19 6p21.33(chr6:32020447-32020770)x1
NM_001365276.2(TNXB):c.1056C>A (p.Cys352Ter) rs759259512
NM_001365276.2(TNXB):c.1680del (p.Gly562fs)
NM_001365276.2(TNXB):c.200_208delinsTGGAAGG (p.Gly67fs)
NM_001365276.2(TNXB):c.2590C>T (p.Gln864Ter) rs748223125
NM_001365276.2(TNXB):c.31A>T (p.Ser11Cys)
NM_001365276.2(TNXB):c.3290_3291del (p.Lys1097fs) rs764070148
NM_001365276.2(TNXB):c.3762_3763dup (p.Arg1255fs) rs765028734
NM_001365276.2(TNXB):c.3763dup (p.Arg1255fs)
NM_001365276.2(TNXB):c.3942dup (p.Thr1315fs) rs2127254498
NM_001365276.2(TNXB):c.4111G>A (p.Glu1371Lys)
NM_001365276.2(TNXB):c.4339C>T (p.Gln1447Ter) rs1562847147
NM_001365276.2(TNXB):c.4573C>T (p.Arg1525Ter)
NM_001365276.2(TNXB):c.4645C>T (p.Gln1549Ter) rs2151921014
NM_001365276.2(TNXB):c.5882_5883del (p.Val1961fs) rs2151915093
NM_001365276.2(TNXB):c.6838del (p.Thr2280fs)
NM_001365276.2(TNXB):c.8247del (p.Asp2750fs) rs2151900685
NM_001365276.2(TNXB):c.8473G>A (p.Glu2825Lys) rs759929653
NM_001365276.2(TNXB):c.8606_8607insA (p.Gln2870fs) rs2151897511
NM_001365276.2(TNXB):c.9174dup (p.Ile3059fs)
NM_001365276.2(TNXB):c.9497A>T (p.Glu3166Val) rs2151892576
NM_001365276.2(TNXB):c.9498_9499del (p.Glu3166fs) rs2151892569
NM_001365276.2(TNXB):c.9511G>T (p.Glu3171Ter) rs2151892548
NM_001365276.2(TNXB):c.9668dup (p.Leu3224fs) rs773500008
NM_001365276.2(TNXB):c.9758-2_9758-1del rs2151891292

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