ClinVar Miner

List of variants in gene ELN reported as likely pathogenic for Cutis laxa, autosomal dominant 1

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Gene type:
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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000501.4(ELN):c.2151del (p.Ala718fs) rs2132828209
NM_000501.4(ELN):c.2161del (p.Arg721fs) rs794729201

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