ClinVar Miner

List of variants reported as likely pathogenic 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.1149C>A (p.Tyr383Ter)	rs199621188
NM_000501.4(ELN):c.166del (p.Leu56fs)	rs2131266202

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