ClinVar Miner

List of variants reported as uncertain significance for Cutis laxa, autosomal dominant 3 by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_002860.4(ALDH18A1):c.1990C>T (p.Leu664Phe)	rs2097834101
NM_002860.4(ALDH18A1):c.2159T>C (p.Phe720Ser)	rs2097831271
NM_002860.4(ALDH18A1):c.89-6C>G	rs2097895286

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