ClinVar Miner

List of variants in gene ABCD1 studied for Primary adrenocortical insufficiency

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000033.4(ABCD1):c.1817C>T (p.Ser606Leu) rs128624225 0.00001
NM_000033.4(ABCD1):c.1820del (p.Gly607fs) rs2148399029

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