ClinVar Miner

List of variants reported as likely benign for Cutis laxa, autosomal dominant 1; Williams syndrome; Supravalvar aortic stenosis by Fulgent Genetics, Fulgent Genetics

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000501.4(ELN):c.381G>A (p.Ala127=)	rs148216123	0.00019
NM_000501.4(ELN):c.249C>T (p.Pro83=)	rs565001805	0.00016

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