ClinVar Miner

List of variants studied for Farber lipogranulomatosis by Illumina Laboratory Services, Illumina

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Total variants: 93
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HGVS dbSNP gnomAD frequency
NM_177924.5(ASAH1):c.737T>C (p.Val246Ala) rs10103355 0.87079
NM_177924.5(ASAH1):c.*1073C>T rs7508 0.77181
NM_177924.5(ASAH1):c.214G>A (p.Val72Met) rs1071645 0.42367
NM_177924.5(ASAH1):c.277A>G (p.Ile93Val) rs1049874 0.42365
NM_177924.5(ASAH1):c.303+7G>A rs4921834 0.42285
NM_177924.5(ASAH1):c.*124T>A rs417661 0.25434
NM_177924.5(ASAH1):c.*729T>C rs6770 0.17217
NM_177924.5(ASAH1):c.*687C>G rs6771 0.16885
NM_177924.5(ASAH1):c.*738C>G rs6769 0.15644
NM_177924.5(ASAH1):c.79-3C>T rs35513736 0.10703
NM_177924.5(ASAH1):c.*244C>T rs405308 0.09459
NM_177924.5(ASAH1):c.*160T>C rs574774 0.09443
NM_177924.5(ASAH1):c.*184T>A rs574114 0.09419
NM_177924.4(ASAH1):c.-227T>G rs34466559 0.08846
NM_177924.5(ASAH1):c.*695C>T rs403910 0.06926
NM_177924.4(ASAH1):c.-238C>T rs35425490 0.06313
NM_177924.5(ASAH1):c.*1103C>T rs28393365 0.05803
NM_177924.5(ASAH1):c.*932C>T rs7002731 0.04112
NM_177924.5(ASAH1):c.372T>A (p.Asp124Glu) rs2472205 0.03317
NM_177924.5(ASAH1):c.*200C>T rs71526182 0.02429
NM_177924.4(ASAH1):c.-101G>A rs139001299 0.02366
NM_177924.5(ASAH1):c.649-8T>C rs143116317 0.00484
NM_177924.5(ASAH1):c.666A>G (p.Thr222=) rs34475490 0.00484
NM_177924.5(ASAH1):c.*368C>T rs17126181 0.00464
NM_177924.5(ASAH1):c.1105G>A (p.Val369Ile) rs17636067 0.00379
NM_177924.5(ASAH1):c.-40C>T rs200994787 0.00199
NM_177924.5(ASAH1):c.*222T>A rs529468227 0.00185
NM_177924.5(ASAH1):c.1004C>T (p.Thr335Met) rs147233112 0.00158
NM_177924.4(ASAH1):c.-104C>G rs546277660 0.00101
NM_177924.5(ASAH1):c.629T>C (p.Met210Thr) rs141068211 0.00098
NM_177924.5(ASAH1):c.*103G>A rs181616268 0.00086
NM_177924.5(ASAH1):c.*459T>C rs546762983 0.00063
NM_177924.5(ASAH1):c.-27C>T rs371756048 0.00062
NM_177924.5(ASAH1):c.382+10A>G rs201735910 0.00061
NM_177924.5(ASAH1):c.620A>T (p.Tyr207Phe) rs150268016 0.00049
NM_177924.5(ASAH1):c.457+7G>A rs189892461 0.00045
NM_177924.5(ASAH1):c.*356C>G rs141443856 0.00034
NM_177924.5(ASAH1):c.*178A>G rs886062779 0.00033
NM_177924.5(ASAH1):c.-38C>T rs201935182 0.00032
NM_177924.5(ASAH1):c.361G>A (p.Ala121Thr) rs146531900 0.00031
NM_177924.5(ASAH1):c.1144G>A (p.Glu382Lys) rs148976489 0.00024
NM_177924.5(ASAH1):c.*292C>G rs542558169 0.00021
NM_177924.5(ASAH1):c.504-4A>G rs138920776 0.00020
NM_177924.5(ASAH1):c.718A>C (p.Ile240Leu) rs374187681 0.00019
NM_177924.5(ASAH1):c.910G>C (p.Val304Leu) rs78267388 0.00016
NM_177924.5(ASAH1):c.-6A>G rs200503438 0.00014
NM_177924.5(ASAH1):c.88G>A (p.Asp30Asn) rs200758704 0.00014
NM_177924.4(ASAH1):c.-175A>T rs549133239 0.00013
NM_177924.5(ASAH1):c.-219A>T rs539981182 0.00011
NM_177924.5(ASAH1):c.*25G>A rs371008353 0.00010
NM_177924.5(ASAH1):c.*136G>A rs116919200 0.00008
NM_177924.5(ASAH1):c.*373C>T rs897374759 0.00008
NM_177924.5(ASAH1):c.*794A>G rs777831142 0.00007
NM_177924.5(ASAH1):c.1006C>G (p.Pro336Ala) rs201632543 0.00007
NM_177924.5(ASAH1):c.132A>T (p.Arg44Ser) rs373524235 0.00004
NM_177924.5(ASAH1):c.261C>T (p.Phe87=) rs138662754 0.00004
NM_177924.5(ASAH1):c.*617T>A rs1012529501 0.00003
NM_177924.5(ASAH1):c.*885T>C rs891342679 0.00002
NM_177924.5(ASAH1):c.*996C>T rs934730070 0.00002
NM_177924.5(ASAH1):c.382+9C>G rs371977439 0.00002
NM_177924.5(ASAH1):c.559G>A (p.Val187Met) rs140561726 0.00002
NM_177924.5(ASAH1):c.*164T>A rs886062780 0.00001
NM_177924.5(ASAH1):c.*933T>C rs886062776 0.00001
NM_177924.5(ASAH1):c.*961A>G rs553021299 0.00001
NM_177924.5(ASAH1):c.-23G>C rs750505676 0.00001
NM_177924.5(ASAH1):c.1079C>T (p.Thr360Ile) rs371520705 0.00001
NM_177924.5(ASAH1):c.1153C>T (p.Leu385=) rs770772909 0.00001
NM_177924.5(ASAH1):c.823A>G (p.Ile275Val) rs1455550501 0.00001
NM_177924.5(ASAH1):c.83C>T (p.Thr28Ile) rs768090112 0.00001
NM_177924.4(ASAH1):c.-247C>G rs886062782
NM_177924.5(ASAH1):c.*171T>C rs878918679
NM_177924.5(ASAH1):c.*176_*177del rs374131883
NM_177924.5(ASAH1):c.*334G>A rs115127411
NM_177924.5(ASAH1):c.*353C>T rs1316138577
NM_177924.5(ASAH1):c.*501T>C rs886062778
NM_177924.5(ASAH1):c.*686T>C rs886062777
NM_177924.5(ASAH1):c.*708_*711del rs35838806
NM_177924.5(ASAH1):c.*926A>C rs3810
NM_177924.5(ASAH1):c.*926A>T rs3810
NM_177924.5(ASAH1):c.-2C>G rs371791165
NM_177924.5(ASAH1):c.1041+5C>T rs746880928
NM_177924.5(ASAH1):c.1107A>T (p.Val369=) rs781019071
NM_177924.5(ASAH1):c.129C>T (p.Tyr43=) rs1210585223
NM_177924.5(ASAH1):c.183A>G (p.Arg61=) rs559209309
NM_177924.5(ASAH1):c.262G>A (p.Val88Met) rs368365768
NM_177924.5(ASAH1):c.304C>A (p.Pro102Thr) rs1799972272
NM_177924.5(ASAH1):c.592G>A (p.Val198Ile) rs151320126
NM_177924.5(ASAH1):c.648+5G>C rs1799735312
NM_177924.5(ASAH1):c.704G>A (p.Gly235Asp) rs886062781
NM_177924.5(ASAH1):c.771G>T (p.Leu257=) rs1799692515
NM_177924.5(ASAH1):c.88G>T (p.Asp30Tyr) rs200758704
NM_177924.5(ASAH1):c.898G>A (p.Glu300Lys) rs1799608413
NM_177924.5(ASAH1):c.967C>T (p.Arg323Cys) rs147830297

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