ClinVar Miner

List of variants in gene ABHD5 reported as benign for autosomal ichthyosis syndrome

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP
NM_016006.6(ABHD5):c.*1110G>C rs2191361
NM_016006.6(ABHD5):c.*1346_*1348del rs58997366
NM_016006.6(ABHD5):c.*1417A>G rs3733156
NM_016006.6(ABHD5):c.*1613T>C rs12491747
NM_016006.6(ABHD5):c.*1662A>G rs117110703
NM_016006.6(ABHD5):c.*1756G>T rs34048061
NM_016006.6(ABHD5):c.*1757A>G rs113347419
NM_016006.6(ABHD5):c.*1834C>G rs12488350
NM_016006.6(ABHD5):c.*1863G>A rs12488392
NM_016006.6(ABHD5):c.*2137A>G rs144521114
NM_016006.6(ABHD5):c.*2324G>T rs17075919
NM_016006.6(ABHD5):c.*2463A>G rs76200032
NM_016006.6(ABHD5):c.*2508A>G rs75590382
NM_016006.6(ABHD5):c.*281C>A rs34226283
NM_016006.6(ABHD5):c.*2935C>A rs10433606
NM_016006.6(ABHD5):c.*3253A>T rs10433548
NM_016006.6(ABHD5):c.*38T>G rs887472
NM_016006.6(ABHD5):c.*3952T>C rs758729
NM_016006.6(ABHD5):c.*4147G>T rs758728
NM_016006.6(ABHD5):c.202T>C (p.Phe68Leu) rs115209685
NM_016006.6(ABHD5):c.215T>C (p.Ile72Thr) rs2302349
NM_016006.6(ABHD5):c.341G>T (p.Arg114Leu) rs148743497

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