ClinVar Miner

List of variants studied for 2-aminoadipic 2-oxoadipic aciduria by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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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.1309G>T (p.Glu437Ter) rs138884194 0.00010
NM_018706.7(DHTKD1):c.1897-1G>A rs760386662 0.00002
NM_018706.7(DHTKD1):c.2235T>G (p.Tyr745Ter)
NM_018706.7(DHTKD1):c.487C>T (p.Arg163Ter)
NM_018706.7(DHTKD1):c.748del (p.Glu250fs) rs1564391327

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