ClinVar Miner

List of variants reported as likely pathogenic for 2-aminoadipic 2-oxoadipic aciduria

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Total variants: 5
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NM_018706.5(DHTKD1):c.2185G>A rs117225135
NM_018706.7(DHTKD1):c.1118C>T (p.Pro373Leu)
NM_018706.7(DHTKD1):c.1897-1G>A rs760386662
NM_018706.7(DHTKD1):c.2154_2154+1insT rs1588616299

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