ClinVar Miner

List of variants studied for Adrenoleukodystrophy by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter) rs128624221
NM_000033.4(ABCD1):c.1699C>T (p.Gln567Ter) rs201114595
NM_000033.4(ABCD1):c.1825G>A (p.Glu609Lys) rs150346282
NM_000033.4(ABCD1):c.22dup (p.Arg8fs) rs2148388526
NM_000033.4(ABCD1):c.900+2T>G rs2091712381

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