ClinVar Miner

List of variants in gene combination LOC106780803, 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: 6
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HGVS dbSNP
NM_001365276.2(TNXB):c.10633G>A (p.Glu3545Lys) rs1379154957
NM_001365276.2(TNXB):c.10789C>T (p.Pro3597Ser) rs764559504
NM_001365276.2(TNXB):c.12180C>G (p.Cys4060Trp) rs56345590
NM_001365276.2(TNXB):c.12224G>A (p.Arg4075His) rs201510617
NM_001365276.2(TNXB):c.12520G>A (p.Asp4174Asn) rs200523717
NM_001365276.2(TNXB):c.12530G>A (p.Ser4177Asn) rs199953230

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