ClinVar Miner

List of variants reported as benign for 2-aminoadipic 2-oxoadipic aciduria by Genome-Nilou Lab

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_018706.7(DHTKD1):c.1938T>C (p.Phe646=) rs1615510 0.99092
NM_018706.7(DHTKD1):c.58T>C (p.Phe20Leu) rs1279138 0.96677
NM_018706.7(DHTKD1):c.2320-25A>G rs2399771 0.95721
NM_018706.7(DHTKD1):c.1911A>C (p.Pro637=) rs1701472 0.95314
NM_018706.7(DHTKD1):c.2079C>T (p.Ile693=) rs1722462 0.87799
NM_018706.7(DHTKD1):c.1671+35C>G rs10906076 0.72736
NM_018706.7(DHTKD1):c.814T>G (p.Tyr272Asp) rs3740015 0.47407
NM_018706.7(DHTKD1):c.310+40C>T rs10906066 0.46492
NM_018706.7(DHTKD1):c.1821C>G (p.Ile607Met) rs2062988

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