ClinVar Miner

List of variants in gene ABHD5 studied for autosomal ichthyosis syndrome

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 119
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HGVS dbSNP
NM_016006.6(ABHD5):c.*1009T>A rs781163659
NM_016006.6(ABHD5):c.*1011G>C rs373123930
NM_016006.6(ABHD5):c.*1076G>A
NM_016006.6(ABHD5):c.*1110G>C rs2191361
NM_016006.6(ABHD5):c.*1201G>A rs886058490
NM_016006.6(ABHD5):c.*125A>T rs752632573
NM_016006.6(ABHD5):c.*1265A>G rs886058491
NM_016006.6(ABHD5):c.*1346_*1348del rs58997366
NM_016006.6(ABHD5):c.*1371A>G rs886058492
NM_016006.6(ABHD5):c.*1417A>G rs3733156
NM_016006.6(ABHD5):c.*1466T>C rs886058493
NM_016006.6(ABHD5):c.*1485A>T
NM_016006.6(ABHD5):c.*1537C>G
NM_016006.6(ABHD5):c.*154A>C
NM_016006.6(ABHD5):c.*1566G>A rs554908983
NM_016006.6(ABHD5):c.*1568T>C rs563435148
NM_016006.6(ABHD5):c.*1596A>T
NM_016006.6(ABHD5):c.*1613T>C rs12491747
NM_016006.6(ABHD5):c.*1662A>G rs117110703
NM_016006.6(ABHD5):c.*1729T>G rs139091067
NM_016006.6(ABHD5):c.*1756G>T rs34048061
NM_016006.6(ABHD5):c.*1757A>G rs113347419
NM_016006.6(ABHD5):c.*1758_*1759insG rs34011416
NM_016006.6(ABHD5):c.*1834C>G rs12488350
NM_016006.6(ABHD5):c.*1860del rs571429944
NM_016006.6(ABHD5):c.*1863G>A rs12488392
NM_016006.6(ABHD5):c.*1895C>A rs886058495
NM_016006.6(ABHD5):c.*1934del rs886058496
NM_016006.6(ABHD5):c.*1957G>T rs144021874
NM_016006.6(ABHD5):c.*2048T>G
NM_016006.6(ABHD5):c.*2057A>T rs886058497
NM_016006.6(ABHD5):c.*2064G>C rs148657202
NM_016006.6(ABHD5):c.*2099A>T
NM_016006.6(ABHD5):c.*2109T>C
NM_016006.6(ABHD5):c.*2128T>C
NM_016006.6(ABHD5):c.*2137A>G rs144521114
NM_016006.6(ABHD5):c.*2206G>A
NM_016006.6(ABHD5):c.*227T>C
NM_016006.6(ABHD5):c.*2304G>T rs886058498
NM_016006.6(ABHD5):c.*2324G>T rs17075919
NM_016006.6(ABHD5):c.*2349T>C
NM_016006.6(ABHD5):c.*2392dup rs767567435
NM_016006.6(ABHD5):c.*2445T>G rs572387719
NM_016006.6(ABHD5):c.*2463A>G rs76200032
NM_016006.6(ABHD5):c.*2492C>T
NM_016006.6(ABHD5):c.*2500A>G
NM_016006.6(ABHD5):c.*2508A>G rs75590382
NM_016006.6(ABHD5):c.*2540A>G
NM_016006.6(ABHD5):c.*2542A>G rs886058500
NM_016006.6(ABHD5):c.*2717dup rs201589254
NM_016006.6(ABHD5):c.*2718del rs886058502
NM_016006.6(ABHD5):c.*281C>A rs34226283
NM_016006.6(ABHD5):c.*2926G>A rs187702555
NM_016006.6(ABHD5):c.*2935C>A rs10433606
NM_016006.6(ABHD5):c.*2965C>G rs886058503
NM_016006.6(ABHD5):c.*29G>C rs376897300
NM_016006.6(ABHD5):c.*302T>A rs886058489
NM_016006.6(ABHD5):c.*3050_*3051del rs529300680
NM_016006.6(ABHD5):c.*3171G>T
NM_016006.6(ABHD5):c.*3186C>T rs886058505
NM_016006.6(ABHD5):c.*3253A>T rs10433548
NM_016006.6(ABHD5):c.*3289_*3292ACAG[1] rs542283317
NM_016006.6(ABHD5):c.*3292G>A
NM_016006.6(ABHD5):c.*3372A>C rs564535027
NM_016006.6(ABHD5):c.*3671A>G rs886058507
NM_016006.6(ABHD5):c.*3680A>C rs549324985
NM_016006.6(ABHD5):c.*3700T>C
NM_016006.6(ABHD5):c.*3730C>T rs886058508
NM_016006.6(ABHD5):c.*3755G>A rs551893817
NM_016006.6(ABHD5):c.*3761A>G rs886058509
NM_016006.6(ABHD5):c.*3806T>C rs528104363
NM_016006.6(ABHD5):c.*3832C>T
NM_016006.6(ABHD5):c.*3833G>T rs539827619
NM_016006.6(ABHD5):c.*3875A>G
NM_016006.6(ABHD5):c.*3885G>T
NM_016006.6(ABHD5):c.*38T>G rs887472
NM_016006.6(ABHD5):c.*392T>G
NM_016006.6(ABHD5):c.*3952T>C rs758729
NM_016006.6(ABHD5):c.*4147G>T rs758728
NM_016006.6(ABHD5):c.*4188A>C
NM_016006.6(ABHD5):c.*4189C>T rs113711457
NM_016006.6(ABHD5):c.*464A>G
NM_016006.6(ABHD5):c.*57T>C
NM_016006.6(ABHD5):c.*707A>G rs765950590
NM_016006.6(ABHD5):c.*848C>T
NM_016006.6(ABHD5):c.*879G>A rs577414446
NM_016006.6(ABHD5):c.*916C>T
NM_016006.6(ABHD5):c.*96A>G
NM_016006.6(ABHD5):c.1025A>G (p.Lys342Arg) rs754772724
NM_016006.6(ABHD5):c.134-2A>G rs1575600969
NM_016006.6(ABHD5):c.201G>C (p.Lys67Asn)
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.228T>G (p.Thr76=) rs377718797
NM_016006.6(ABHD5):c.341G>T (p.Arg114Leu) rs148743497
NM_016006.6(ABHD5):c.344G>A (p.Ser115Asn) rs1559412343
NM_016006.6(ABHD5):c.345T>C (p.Ser115=) rs777749420
NM_016006.6(ABHD5):c.389A>C (p.Gln130Pro) rs28939077
NM_016006.6(ABHD5):c.418T>G (p.Cys140Gly)
NM_016006.6(ABHD5):c.430T>C (p.Leu144=) rs767197048
NM_016006.6(ABHD5):c.444C>T (p.Ile148=)
NM_016006.6(ABHD5):c.48-4C>G rs183345998
NM_016006.6(ABHD5):c.550C>T (p.Arg184Ter)
NM_016006.6(ABHD5):c.594dup (p.Arg199fs) rs387906335
NM_016006.6(ABHD5):c.640C>A (p.Leu214Ile) rs540791910
NM_016006.6(ABHD5):c.662-10T>G rs372889561
NM_016006.6(ABHD5):c.730dup (p.Thr244fs)
NM_016006.6(ABHD5):c.774-1G>A
NM_016006.6(ABHD5):c.778G>A (p.Glu260Lys) rs28939078
NM_016006.6(ABHD5):c.806C>T (p.Pro269Leu) rs773285310
NM_016006.6(ABHD5):c.810T>A (p.Tyr270Ter)
NM_016006.6(ABHD5):c.811G>A (p.Gly271Arg) rs1575607298
NM_016006.6(ABHD5):c.836del (p.Gln279fs)
NM_016006.6(ABHD5):c.885C>T (p.Gly295=) rs746970260
NM_016006.6(ABHD5):c.906C>A (p.Gly302=) rs886058488
NM_016006.6(ABHD5):c.934C>T (p.Arg312Ter) rs761087968
NM_016006.6(ABHD5):c.961-15C>T
NM_016006.6(ABHD5):c.984T>C (p.Tyr328=)
NM_016006.6(ABHD5):c.98C>G (p.Ser33Ter) rs104893675

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