ClinVar Miner

List of variants in gene COL5A2 studied for Familial thoracic aortic aneurysm and aortic dissection; Disproportionate tall stature

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_000393.5(COL5A2):c.3471+8A>T rs367643805 0.00061

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