ClinVar Miner

List of variants in gene ABHD5 reported as benign for Dorfman-Chanarin disease

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_016006.6(ABHD5):c.*1417A>G rs3733156 0.58191
NM_016006.6(ABHD5):c.*1863G>A rs12488392 0.08101
NM_016006.6(ABHD5):c.*1613T>C rs12491747 0.08098
NM_016006.6(ABHD5):c.*3253A>T rs10433548 0.08092
NM_016006.6(ABHD5):c.*1110G>C rs2191361 0.08040
NM_016006.6(ABHD5):c.*1834C>G rs12488350 0.07391
NM_016006.6(ABHD5):c.*2324G>T rs17075919 0.07370
NM_016006.6(ABHD5):c.*38T>G rs887472 0.06058
NM_016006.6(ABHD5):c.*4147G>T rs758728 0.05485
NM_016006.6(ABHD5):c.*281C>A rs34226283 0.04705
NM_016006.6(ABHD5):c.*3952T>C rs758729 0.04704
NM_016006.6(ABHD5):c.*2935C>A rs10433606 0.04651
NM_016006.6(ABHD5):c.*1756G>T rs34048061 0.04624
NM_016006.6(ABHD5):c.*1757A>G rs113347419 0.02285
NM_016006.6(ABHD5):c.*1662A>G rs117110703 0.01819
NM_016006.6(ABHD5):c.*2137A>G rs144521114 0.00937
NM_016006.6(ABHD5):c.*2463A>G rs76200032 0.00922
NM_016006.6(ABHD5):c.*2508A>G rs75590382 0.00797
NM_016006.6(ABHD5):c.341G>T (p.Arg114Leu) rs148743497 0.00793
NM_016006.6(ABHD5):c.202T>C (p.Phe68Leu) rs115209685 0.00474
NM_016006.6(ABHD5):c.215T>C (p.Ile72Thr) rs2302349 0.00009
NM_016006.6(ABHD5):c.*1346_*1348del rs58997366

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