ClinVar Miner

List of variants studied for Triglyceride storage disease with ichthyosis by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 121
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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_016006.5(ABHD5):c.-114A>G rs74845403 0.07857
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.*1758_*1759insG rs34011416 0.04623
NM_016006.6(ABHD5):c.*1757A>G rs113347419 0.02285
NM_016006.6(ABHD5):c.12G>A (p.Glu4=) rs141365045 0.01973
NM_016006.6(ABHD5):c.-19C>T rs117630969 0.01822
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.39C>T (p.Thr13=) rs140969259 0.00433
NM_016006.6(ABHD5):c.*4189C>T rs113711457 0.00394
NM_016006.6(ABHD5):c.*1485A>T rs189585954 0.00237
NM_016006.6(ABHD5):c.*2064G>C rs148657202 0.00154
NM_016006.6(ABHD5):c.*1729T>G rs139091067 0.00153
NM_016006.5(ABHD5):c.-68C>G rs561357404 0.00109
NM_016006.6(ABHD5):c.*848C>T rs114083722 0.00107
NM_016006.5(ABHD5):c.-65G>C rs186175534 0.00106
NM_016006.6(ABHD5):c.*879G>A rs577414446 0.00106
NM_016006.6(ABHD5):c.*3806T>C rs528104363 0.00096
NM_016006.6(ABHD5):c.*2926G>A rs187702555 0.00091
NM_016006.6(ABHD5):c.*2445T>G rs572387719 0.00083
NM_016006.6(ABHD5):c.11A>C (p.Glu4Ala) rs138400599 0.00081
NM_016006.6(ABHD5):c.*2128T>C rs62253040 0.00073
NM_016006.6(ABHD5):c.*392T>G rs192816274 0.00071
NM_016006.6(ABHD5):c.*3833G>T rs539827619 0.00070
NM_016006.6(ABHD5):c.*1011G>C rs373123930 0.00068
NM_016006.6(ABHD5):c.*96A>G rs145145864 0.00066
NM_016006.6(ABHD5):c.48-4C>G rs183345998 0.00066
NM_016006.6(ABHD5):c.*707A>G rs765950590 0.00045
NM_016006.6(ABHD5):c.*3680A>C rs549324985 0.00041
NM_016006.6(ABHD5):c.961-15C>T rs375012502 0.00038
NM_016006.6(ABHD5):c.*3755G>A rs551893817 0.00027
NM_016006.6(ABHD5):c.*3372A>C rs564535027 0.00026
NM_016006.6(ABHD5):c.*3730C>T rs886058508 0.00024
NM_016006.6(ABHD5):c.26A>G (p.Asp9Gly) rs144420157 0.00023
NM_016006.6(ABHD5):c.*1466T>C rs886058493 0.00021
NM_016006.6(ABHD5):c.*464A>G rs570411081 0.00021
NM_016006.6(ABHD5):c.-48C>T rs372014366 0.00021
NM_016006.6(ABHD5):c.*1895C>A rs886058495 0.00019
NM_016006.6(ABHD5):c.*2109T>C rs190545723 0.00019
NM_016006.5(ABHD5):c.-64G>A rs564192984 0.00016
NM_016006.6(ABHD5):c.*29G>C rs376897300 0.00016
NM_016006.6(ABHD5):c.201G>C (p.Lys67Asn) rs200927822 0.00016
NM_016006.6(ABHD5):c.*3832C>T rs140754839 0.00014
NM_016006.6(ABHD5):c.*2540A>G rs746117389 0.00010
NM_016006.6(ABHD5):c.*1265A>G rs886058491 0.00009
NM_016006.6(ABHD5):c.*1568T>C rs563435148 0.00009
NM_016006.6(ABHD5):c.215T>C (p.Ile72Thr) rs2302349 0.00009
NM_016006.6(ABHD5):c.*1957G>T rs144021874 0.00007
NM_016006.6(ABHD5):c.-24C>T rs189850893 0.00006
NM_016006.6(ABHD5):c.*1009T>A rs781163659 0.00005
NM_016006.6(ABHD5):c.*302T>A rs886058489 0.00005
NM_016006.6(ABHD5):c.*2206G>A rs916762006 0.00004
NM_016006.6(ABHD5):c.*2492C>T rs962293407 0.00004
NM_016006.6(ABHD5):c.*3875A>G rs905999888 0.00004
NM_016006.6(ABHD5):c.1025A>G (p.Lys342Arg) rs754772724 0.00004
NM_016006.6(ABHD5):c.*2048T>G rs563333604 0.00003
NM_016006.6(ABHD5):c.*4188A>C rs919273821 0.00003
NM_016006.6(ABHD5):c.430T>C (p.Leu144=) rs767197048 0.00003
NM_016006.6(ABHD5):c.640C>A (p.Leu214Ile) rs540791910 0.00003
NM_016006.6(ABHD5):c.885C>T (p.Gly295=) rs746970260 0.00003
NM_016006.5(ABHD5):c.-91C>G rs886058487 0.00002
NM_016006.6(ABHD5):c.*3761A>G rs886058509 0.00002
NM_016006.6(ABHD5):c.228T>G (p.Thr76=) rs377718797 0.00002
NM_016006.6(ABHD5):c.*1566G>A rs554908983 0.00001
NM_016006.6(ABHD5):c.*1596A>T rs1052624004 0.00001
NM_016006.6(ABHD5):c.*2099A>T rs1398246638 0.00001
NM_016006.6(ABHD5):c.*227T>C rs868459937 0.00001
NM_016006.6(ABHD5):c.*3171G>T rs1458560122 0.00001
NM_016006.6(ABHD5):c.*3700T>C rs1159879784 0.00001
NM_016006.6(ABHD5):c.345T>C (p.Ser115=) rs777749420 0.00001
NM_016006.6(ABHD5):c.43G>A (p.Glu15Lys) rs761863848 0.00001
NM_016006.6(ABHD5):c.444C>T (p.Ile148=) rs753853386 0.00001
NM_016006.6(ABHD5):c.806C>T (p.Pro269Leu) rs773285310 0.00001
NM_016006.6(ABHD5):c.984T>C (p.Tyr328=) rs539028911 0.00001
NM_016006.5(ABHD5):c.-98C>A rs886058486
NM_016006.6(ABHD5):c.*1076G>A rs189602319
NM_016006.6(ABHD5):c.*1201G>A rs886058490
NM_016006.6(ABHD5):c.*125A>T rs752632573
NM_016006.6(ABHD5):c.*1346_*1348del rs58997366
NM_016006.6(ABHD5):c.*1371A>G rs886058492
NM_016006.6(ABHD5):c.*1537C>G rs918389489
NM_016006.6(ABHD5):c.*154A>C rs896424838
NM_016006.6(ABHD5):c.*1860del rs571429944
NM_016006.6(ABHD5):c.*1934del rs886058496
NM_016006.6(ABHD5):c.*2057A>T rs886058497
NM_016006.6(ABHD5):c.*2304G>T rs886058498
NM_016006.6(ABHD5):c.*2349T>C rs2084827704
NM_016006.6(ABHD5):c.*2392dup rs767567435
NM_016006.6(ABHD5):c.*2500A>G rs973032054
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.*2965C>G rs886058503
NM_016006.6(ABHD5):c.*3050_*3051del rs529300680
NM_016006.6(ABHD5):c.*3186C>T rs886058505
NM_016006.6(ABHD5):c.*3289ACAG[1] rs542283317
NM_016006.6(ABHD5):c.*3292G>A rs776275000
NM_016006.6(ABHD5):c.*3671A>G rs886058507
NM_016006.6(ABHD5):c.*3885G>T rs2084847192
NM_016006.6(ABHD5):c.*57T>C rs1553617074
NM_016006.6(ABHD5):c.*916C>T rs2084807956
NM_016006.6(ABHD5):c.-30A>G rs367627114
NM_016006.6(ABHD5):c.418T>G (p.Cys140Gly) rs2084555727
NM_016006.6(ABHD5):c.662-10T>G rs372889561
NM_016006.6(ABHD5):c.906C>A (p.Gly302=) rs886058488

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