ClinVar Miner

List of variants in gene combination LOC106780803, TNXB reported as benign for Ehlers-Danlos syndrome due to tenascin-X deficiency

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001365276.2(TNXB):c.11531-25T>C rs2856451 0.54722
NM_001365276.2(TNXB):c.11387-45T>C rs397948 0.46540
NM_001365276.2(TNXB):c.12170A>T (p.Asn4057Ile) rs17421133 0.25264
NM_001365276.2(TNXB):c.11387-9T>C rs2894233 0.01611

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