ClinVar Miner

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

Included ClinVar conditions (2):

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg)	rs117225135	0.00190
NM_018706.7(DHTKD1):c.1228C>T (p.Arg410Ter)	rs397514534	0.00001
NM_018706.7(DHTKD1):c.1A>G (p.Met1Val)	rs1564385081

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