ClinVar Miner

List of variants reported for Aortic aneurysm, familial thoracic 7 by Knight Diagnostic Laboratories, Oregon Health and Sciences University

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_053025.4(MYLK):c.256C>T (p.Arg86Trp) rs368822172 0.00032
NM_053025.4(MYLK):c.119G>A (p.Arg40Gln) rs767877538 0.00004
NM_053025.4(MYLK):c.1968G>T (p.Trp656Cys) rs138172035

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