ClinVar Miner

List of variants in gene ASAH1 studied for Farber lipogranulomatosis

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 169
Download table as spreadsheet
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.457+45A>G rs2073574 0.64032
NM_177924.5(ASAH1):c.458-68T>C rs7824644 0.48338
NM_177924.5(ASAH1):c.303+53T>G rs4921567 0.42485
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.126-21A>G rs12547845 0.42360
NM_177924.5(ASAH1):c.126-100C>T rs12549594 0.42357
NM_177924.5(ASAH1):c.126-1873G>A rs3753115 0.42287
NM_177924.5(ASAH1):c.303+7G>A rs4921834 0.42285
NM_177924.5(ASAH1):c.303+117T>C rs2427746 0.35577
NM_177924.5(ASAH1):c.304-42G>A rs12675283 0.34950
NM_177924.5(ASAH1):c.303+21C>A rs2106037 0.34725
NM_177924.5(ASAH1):c.503+71G>A rs6586683 0.33468
NM_177924.5(ASAH1):c.382+84C>A rs115973081 0.32897
NM_177924.5(ASAH1):c.503+127G>A rs7387930 0.32681
NM_177924.5(ASAH1):c.*124T>A rs417661 0.25434
NM_177924.5(ASAH1):c.704-19T>C rs17515291 0.21755
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_177924.5(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.*222T>A rs529468227 0.00185
NM_177924.5(ASAH1):c.1004C>T (p.Thr335Met) rs147233112 0.00158
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.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.1041+19C>A rs17126194 0.00037
NM_177924.5(ASAH1):c.*356C>G rs141443856 0.00034
NM_177924.5(ASAH1):c.361G>A (p.Ala121Thr) rs146531900 0.00031
NM_177924.5(ASAH1):c.376C>A (p.Pro126Thr) rs199785411 0.00030
NM_177924.5(ASAH1):c.1144G>A (p.Glu382Lys) rs148976489 0.00024
NM_177924.5(ASAH1):c.308G>C (p.Gly103Ala) rs144169068 0.00022
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.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.*178A>G rs886062779 0.00007
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.997C>G (p.Arg333Gly) rs543697946 0.00006
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.677G>C (p.Arg226Pro) rs377749094 0.00003
NM_177924.5(ASAH1):c.760A>G (p.Arg254Gly) rs1564537266 0.00003
NM_177924.5(ASAH1):c.997C>T (p.Arg333Cys) rs543697946 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.784A>T (p.Ser262Cys) rs781103974 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.1079C>T (p.Thr360Ile) rs371520705 0.00001
NM_177924.5(ASAH1):c.1098+1G>T rs763842677 0.00001
NM_177924.5(ASAH1):c.1153C>T (p.Leu385=) rs770772909 0.00001
NM_177924.5(ASAH1):c.1169A>G (p.Asp390Gly) rs373012279 0.00001
NM_177924.5(ASAH1):c.1175G>A (p.Cys392Tyr) rs746513660 0.00001
NM_177924.5(ASAH1):c.186G>A (p.Trp62Ter) rs769683272 0.00001
NM_177924.5(ASAH1):c.410A>G (p.Tyr137Cys) rs371666412 0.00001
NM_177924.5(ASAH1):c.538G>A (p.Glu180Lys) rs762756953 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.1041+5C>T rs746880928
NM_177924.5(ASAH1):c.107A>G (p.Tyr36Cys) rs137853595
NM_177924.5(ASAH1):c.1084C>A (p.Pro362Thr) rs1588973247
NM_177924.5(ASAH1):c.1085C>G (p.Pro362Arg) rs1588973237
NM_177924.5(ASAH1):c.1096A>C (p.Lys366Gln) rs1588973202
NM_177924.5(ASAH1):c.1098+120T>G rs420610
NM_177924.5(ASAH1):c.1107A>T (p.Val369=) rs781019071
NM_177924.5(ASAH1):c.1186dup (p.Ter396LeuextTer?) rs1588971545
NM_177924.5(ASAH1):c.121_125+19del
NM_177924.5(ASAH1):c.125+211_383-1330del
NM_177924.5(ASAH1):c.129C>T (p.Tyr43=) rs1210585223
NM_177924.5(ASAH1):c.174dup (p.Tyr59fs) rs771718522
NM_177924.5(ASAH1):c.183A>G (p.Arg61=) rs559209309
NM_177924.5(ASAH1):c.216+46TATTT[3] rs35875004
NM_177924.5(ASAH1):c.256dup (p.Thr86fs) rs1336696568
NM_177924.5(ASAH1):c.262G>A (p.Val88Met) rs368365768
NM_177924.5(ASAH1):c.287TGG[1] (p.Val97del) rs1588989947
NM_177924.5(ASAH1):c.290T>A (p.Val97Glu) rs1588989964
NM_177924.5(ASAH1):c.290T>G (p.Val97Gly) rs1588989964
NM_177924.5(ASAH1):c.304C>A (p.Pro102Thr) rs1799972272
NM_177924.5(ASAH1):c.314T>C (p.Leu105Pro) rs1588986195
NM_177924.5(ASAH1):c.358G>C (p.Ala120Pro) rs2117047219
NM_177924.5(ASAH1):c.375_379del (p.Pro126fs)
NM_177924.5(ASAH1):c.383-10_383-6del rs761372687
NM_177924.5(ASAH1):c.408T>A (p.Phe136Leu) rs1588982421
NM_177924.5(ASAH1):c.410_411del (p.Phe136_Tyr137insTer) rs1281024431
NM_177924.5(ASAH1):c.412G>T (p.Glu138Ter) rs1588982399
NM_177924.5(ASAH1):c.413A>G (p.Glu138Gly) rs137853594
NM_177924.5(ASAH1):c.413A>T (p.Glu138Val) rs137853594
NM_177924.5(ASAH1):c.427T>G (p.Cys143Gly) rs2117037405
NM_177924.5(ASAH1):c.457+4A>G rs767864356
NM_177924.5(ASAH1):c.457G>C (p.Gly153Arg)
NM_177924.5(ASAH1):c.458-81T>A rs7824650
NM_177924.5(ASAH1):c.502G>T (p.Gly168Trp) rs1421841663
NM_177924.5(ASAH1):c.505T>C (p.Trp169Arg) rs756455049
NM_177924.5(ASAH1):c.518A>T (p.Asn173Ile) rs1588978873
NM_177924.5(ASAH1):c.544C>G (p.Leu182Val) rs137853597
NM_177924.5(ASAH1):c.587A>G (p.Lys196Arg) rs1206454808
NM_177924.5(ASAH1):c.592G>A (p.Val198Ile) rs151320126
NM_177924.5(ASAH1):c.593T>C (p.Val198Ala) rs1588978706
NM_177924.5(ASAH1):c.594_599dup (p.Phe199_Lys200insAsnPhe) rs1588978684
NM_177924.5(ASAH1):c.626G>A (p.Gly209Asp) rs1588978567
NM_177924.5(ASAH1):c.648+1G>C rs1411267767
NM_177924.5(ASAH1):c.648+5G>C rs1799735312
NM_177924.5(ASAH1):c.665C>A (p.Thr222Lys) rs137853593
NM_177924.5(ASAH1):c.667C>T (p.Leu223=) rs371332103
NM_177924.5(ASAH1):c.66G>C (p.Gln22His) rs1589012017
NM_177924.5(ASAH1):c.67C>G (p.His23Asp) rs1359437059
NM_177924.5(ASAH1):c.703G>C (p.Gly235Arg) rs1554808625
NM_177924.5(ASAH1):c.704-2A>G rs1588977181
NM_177924.5(ASAH1):c.704G>A (p.Gly235Asp) rs886062781
NM_177924.5(ASAH1):c.704G>T (p.Gly235Val)
NM_177924.5(ASAH1):c.770T>C (p.Leu257Pro) rs1588977010
NM_177924.5(ASAH1):c.771G>T (p.Leu257=) rs1799692515
NM_177924.5(ASAH1):c.77C>T (p.Pro26Leu)
NM_177924.5(ASAH1):c.786-1G>T
NM_177924.5(ASAH1):c.79-50G>A rs34482943
NM_177924.5(ASAH1):c.833C>T (p.Pro278Leu) rs895669204
NM_177924.5(ASAH1):c.847C>G (p.Leu283Val) rs750455734
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.917+4A>G rs397509415
NM_177924.5(ASAH1):c.917+5G>A rs1588974593
NM_177924.5(ASAH1):c.92G>T (p.Cys31Phe) rs1588999402
NM_177924.5(ASAH1):c.94A>T (p.Arg32Ter) rs1588999386
NM_177924.5(ASAH1):c.958A>G (p.Asn320Asp) rs137853596
NM_177924.5(ASAH1):c.959A>G (p.Asn320Ser) rs1588974267
NM_177924.5(ASAH1):c.967C>T (p.Arg323Cys) rs147830297
NM_177924.5(ASAH1):c.991G>A (p.Asp331Asn) rs1354060089
NM_177924.5(ASAH1):c.998G>A (p.Arg333His) rs1588974098

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.