ClinVar Miner

List of variants reported as pathogenic for Adrenoleukodystrophy by Fulgent Genetics, Fulgent Genetics

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000033.4(ABCD1):c.1597A>C (p.Lys533Gln)	rs781862879	0.00001
NM_000033.4(ABCD1):c.1288C>T (p.Gln430Ter)	rs797044726
NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys)	rs193922098

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