ClinVar Miner

List of variants studied for Aortic aneurysm, familial thoracic 4 by MGZ Medical Genetics Center

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_002474.3(MYH11):c.3235G>A (p.Ala1079Thr) rs140479999 0.00006
NM_002474.3(MYH11):c.4123G>A (p.Asp1375Asn) rs143467011 0.00002
NM_002474.3(MYH11):c.3712G>A (p.Gly1238Arg) rs558332944 0.00001
NM_002474.3(MYH11):c.2012C>T (p.Thr671Ile)
NM_002474.3(MYH11):c.2408G>A (p.Arg803Lys) rs749801876
NM_002474.3(MYH11):c.5343GAA[1] (p.Lys1782del) rs2151198418

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