ClinVar Miner

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

Included ClinVar conditions (36):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_001365276.2(TNXB):c.2030A>G (p.Asp677Gly) rs141190850
NM_001365276.2(TNXB):c.2170C>T (p.Arg724Cys) rs138771398
NM_001365276.2(TNXB):c.3212C>G (p.Thr1071Arg) rs573740606
NM_001365276.2(TNXB):c.4996C>T (p.Arg1666Ter) rs746016355
NM_001365276.2(TNXB):c.5416T>C (p.Phe1806Leu) rs184813324
NM_001365276.2(TNXB):c.6177C>G (p.His2059Gln) rs551447544
NM_001365276.2(TNXB):c.7126G>T (p.Gly2376Cys) rs764295837
NM_001365276.2(TNXB):c.861G>A (p.Arg287=) rs1406340228
NM_001365276.2(TNXB):c.9637A>G (p.Arg3213Gly) rs377386505
NM_001365276.2(TNXB):c.9661G>A (p.Val3221Met) rs367685759

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