ClinVar Miner

List of variants in gene SMAD6 reported as likely pathogenic for Thoracic aortic aneurysm

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_005585.5(SMAD6):c.572T>C (p.Leu191Pro)	rs1213841516	0.00001
NM_005585.5(SMAD6):c.86G>C (p.Gly29Ala)	rs1411192932

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