ClinVar Miner

List of variants in gene ABHD5 reported as uncertain significance for Triglyceride storage disease with ichthyosis

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Gene type:
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Total variants: 83
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HGVS dbSNP gnomAD frequency
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_016006.6(ABHD5):c.*848C>T rs114083722 0.00107
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.*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.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.*3730C>T rs886058508 0.00024
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.*1895C>A rs886058495 0.00019
NM_016006.6(ABHD5):c.*2109T>C rs190545723 0.00019
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.*1957G>T rs144021874 0.00007
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.258A>C (p.Gly86=) rs537368660 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_016006.6(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.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_016006.6(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.*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.337G>A (p.Gly113Arg)
NM_016006.6(ABHD5):c.344G>A (p.Ser115Asn) rs1559412343
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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