ClinVar Miner

List of variants reported as likely pathogenic for Adrenoleukodystrophy by Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000033.4(ABCD1):c.1628C>G (p.Pro543Arg) rs1557054776
NM_000033.4(ABCD1):c.2002A>G (p.Thr668Ala) rs1603236086
NM_000033.4(ABCD1):c.839G>C (p.Arg280Pro) rs781904944
NM_000033.4(ABCD1):c.904_905delinsAT (p.Glu302Met) rs2091726242

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