ClinVar Miner

List of variants in gene ARSL reported as likely benign for autosomal dominant chondrodysplasia punctata

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 182
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HGVS dbSNP gnomAD frequency
NM_000047.3(ARSL):c.1497G>A (p.Pro499=) rs75821383 0.00036
NM_000047.3(ARSL):c.854+18A>G rs186149776 0.00033
NM_000047.3(ARSL):c.307+9C>G rs369969850 0.00029
NM_000047.3(ARSL):c.138C>T (p.Asp46=) rs772470238 0.00015
NM_000047.3(ARSL):c.543C>T (p.Cys181=) rs772922751 0.00011
NM_000047.3(ARSL):c.431-15C>T rs753997377 0.00010
NM_000047.3(ARSL):c.699G>A (p.Ser233=) rs765024303 0.00008
NM_000047.3(ARSL):c.1164C>T (p.Arg388=) rs145964787 0.00007
NM_000047.3(ARSL):c.186-10C>A rs200613510 0.00007
NM_000047.3(ARSL):c.1062C>T (p.His354=) rs368781635 0.00006
NM_000047.3(ARSL):c.1362G>A (p.Met454Ile) rs763217030 0.00006
NM_000047.3(ARSL):c.888C>T (p.Ser296=) rs184888777 0.00006
NM_000047.3(ARSL):c.1192G>A (p.Val398Met) rs749325947 0.00005
NM_000047.3(ARSL):c.1405C>T (p.Arg469Trp) rs761977883 0.00005
NM_000047.3(ARSL):c.693C>G (p.Ala231=) rs983090548 0.00005
NM_000047.3(ARSL):c.1026G>A (p.Leu342=) rs774019385 0.00004
NM_000047.3(ARSL):c.1350C>T (p.His450=) rs1191336105 0.00004
NM_000047.3(ARSL):c.1596C>T (p.Pro532=) rs758889321 0.00004
NM_000047.3(ARSL):c.1619G>A (p.Arg540Gln) rs369409927 0.00004
NM_000047.3(ARSL):c.1632G>A (p.Ala544=) rs751521450 0.00004
NM_000047.3(ARSL):c.1056G>A (p.Ser352=) rs187110605 0.00003
NM_000047.3(ARSL):c.1127-10T>C rs758029161 0.00003
NM_000047.3(ARSL):c.117C>T (p.Asn39=) rs761290409 0.00003
NM_000047.3(ARSL):c.1239C>T (p.Asp413=) rs142382411 0.00003
NM_000047.3(ARSL):c.185+18A>G rs1229381369 0.00003
NM_000047.3(ARSL):c.246C>T (p.Ala82=) rs893041444 0.00003
NM_000047.3(ARSL):c.431-9G>C rs764323453 0.00003
NM_000047.3(ARSL):c.51G>A (p.Ala17=) rs145117830 0.00003
NM_000047.3(ARSL):c.948C>T (p.His316=) rs2089374279 0.00003
NM_000047.3(ARSL):c.1077G>A (p.Glu359=) rs961100839 0.00002
NM_000047.3(ARSL):c.1127-15T>G rs746787848 0.00002
NM_000047.3(ARSL):c.1227G>A (p.Thr409=) rs369695084 0.00002
NM_000047.3(ARSL):c.1266G>A (p.Ala422=) rs944277473 0.00002
NM_000047.3(ARSL):c.1269C>T (p.Gly423=) rs201122295 0.00002
NM_000047.3(ARSL):c.1272C>T (p.Gly424=) rs377070602 0.00002
NM_000047.3(ARSL):c.1359G>C (p.Leu453=) rs538693483 0.00002
NM_000047.3(ARSL):c.135G>A (p.Ala45=) rs144570956 0.00002
NM_000047.3(ARSL):c.1431C>A (p.Val477=) rs41308353 0.00002
NM_000047.3(ARSL):c.1443G>A (p.Thr481=) rs780330895 0.00002
NM_000047.3(ARSL):c.147C>T (p.Gly49=) rs759860527 0.00002
NM_000047.3(ARSL):c.348C>T (p.Thr116=) rs751900621 0.00002
NM_000047.3(ARSL):c.431-7C>T rs1479675119 0.00002
NM_000047.3(ARSL):c.60T>C (p.Ala20=) rs753424605 0.00002
NM_000047.3(ARSL):c.813G>A (p.Thr271=) rs761608492 0.00002
NM_000047.3(ARSL):c.837T>C (p.Val279=) rs760371548 0.00002
NM_000047.3(ARSL):c.855-16T>C rs1429645310 0.00002
NM_000047.3(ARSL):c.873C>A (p.Phe291Leu) rs747636238 0.00002
NM_000047.3(ARSL):c.933C>T (p.Leu311=) rs144550713 0.00002
NM_000047.3(ARSL):c.1041C>A (p.Leu347=) rs1378703514 0.00001
NM_000047.3(ARSL):c.1050T>C (p.Phe350=) rs1432604504 0.00001
NM_000047.3(ARSL):c.1053G>A (p.Thr351=) rs776633099 0.00001
NM_000047.3(ARSL):c.1059T>C (p.Asp353=) rs1427897388 0.00001
NM_000047.3(ARSL):c.1065C>T (p.Gly355=) rs376707494 0.00001
NM_000047.3(ARSL):c.108C>G (p.Ser36=) rs2518385199 0.00001
NM_000047.3(ARSL):c.1092C>T (p.Asn364=) rs762331693 0.00001
NM_000047.3(ARSL):c.1126+13T>C rs775743531 0.00001
NM_000047.3(ARSL):c.1126+14G>A rs772219805 0.00001
NM_000047.3(ARSL):c.1127-13T>C rs779865953 0.00001
NM_000047.3(ARSL):c.1127-19T>C rs1217317360 0.00001
NM_000047.3(ARSL):c.1170C>T (p.Pro390=) rs775761812 0.00001
NM_000047.3(ARSL):c.1176C>A (p.Ile392=) rs1295364297 0.00001
NM_000047.3(ARSL):c.1200G>A (p.Pro400=) rs746830733 0.00001
NM_000047.3(ARSL):c.1218C>T (p.Gly406=) rs758104330 0.00001
NM_000047.3(ARSL):c.1299C>T (p.Asp433=) rs777219380 0.00001
NM_000047.3(ARSL):c.1338A>G (p.Gln446=) rs1428847578 0.00001
NM_000047.3(ARSL):c.1419A>G (p.Thr473=) rs755373707 0.00001
NM_000047.3(ARSL):c.1458A>G (p.Pro486=) rs1322974082 0.00001
NM_000047.3(ARSL):c.1461G>A (p.Glu487=) rs993209695 0.00001
NM_000047.3(ARSL):c.1467C>T (p.Ala489=) rs1329604316 0.00001
NM_000047.3(ARSL):c.1479T>C (p.Tyr493=) rs772699055 0.00001
NM_000047.3(ARSL):c.1629G>A (p.Gln543=) rs753971115 0.00001
NM_000047.3(ARSL):c.1653A>T (p.Thr551=) rs772926810 0.00001
NM_000047.3(ARSL):c.1686G>C (p.Leu562=) rs1057523183 0.00001
NM_000047.3(ARSL):c.192G>A (p.Pro64=) rs753323404 0.00001
NM_000047.3(ARSL):c.219C>G (p.Gly73=) rs768004061 0.00001
NM_000047.3(ARSL):c.23+15T>C rs773911830 0.00001
NM_000047.3(ARSL):c.23+19C>T rs1184789992 0.00001
NM_000047.3(ARSL):c.23+9C>A rs779192889 0.00001
NM_000047.3(ARSL):c.285G>A (p.Thr95=) rs1450519948 0.00001
NM_000047.3(ARSL):c.327T>C (p.Gly109=) rs768024198 0.00001
NM_000047.3(ARSL):c.430+9G>C rs201397574 0.00001
NM_000047.3(ARSL):c.431-18A>C rs1304381852 0.00001
NM_000047.3(ARSL):c.474T>C (p.His158=) rs2089436420 0.00001
NM_000047.3(ARSL):c.513C>T (p.Tyr171=) rs143383382 0.00001
NM_000047.3(ARSL):c.57C>T (p.Leu19=) rs193203644 0.00001
NM_000047.3(ARSL):c.696T>G (p.Leu232=) rs761565198 0.00001
NM_000047.3(ARSL):c.702C>T (p.Ala234=) rs372031284 0.00001
NM_000047.3(ARSL):c.753C>T (p.Ala251=) rs756226879 0.00001
NM_000047.3(ARSL):c.854+7A>T rs1256800619 0.00001
NM_000047.3(ARSL):c.855-14G>A rs765162495 0.00001
NM_000047.3(ARSL):c.855-8A>G rs1484770267 0.00001
NM_000047.3(ARSL):c.936G>A (p.Gly312=) rs2089374546 0.00001
NM_000047.3(ARSL):c.93C>T (p.Ser31=) rs779081651 0.00001
NM_000047.3(ARSL):c.966C>T (p.Asn322=) rs149712610 0.00001
NM_000047.3(ARSL):c.1008T>A (p.Thr336=) rs1308905750
NM_000047.3(ARSL):c.1014C>T (p.Asp338=) rs1242404525
NM_000047.3(ARSL):c.1035C>T (p.Ser345=) rs1317262405
NM_000047.3(ARSL):c.1047T>C (p.Tyr349=) rs2518333906
NM_000047.3(ARSL):c.1065C>A (p.Gly355=) rs376707494
NM_000047.3(ARSL):c.1071C>G (p.Ser357=) rs2518333725
NM_000047.3(ARSL):c.1126+12A>C
NM_000047.3(ARSL):c.1126+12A>G
NM_000047.3(ARSL):c.1127-4C>G rs749922782
NM_000047.3(ARSL):c.1127-5C>T rs2089232022
NM_000047.3(ARSL):c.1127-9C>T rs2089232090
NM_000047.3(ARSL):c.1134G>A (p.Lys378=) rs2089231820
NM_000047.3(ARSL):c.114G>C (p.Pro38=) rs147879083
NM_000047.3(ARSL):c.114G>T (p.Pro38=) rs147879083
NM_000047.3(ARSL):c.1164C>A (p.Arg388=) rs145964787
NM_000047.3(ARSL):c.1203C>T (p.Ala401=) rs2518319977
NM_000047.3(ARSL):c.1218C>A (p.Gly406=) rs758104330
NM_000047.3(ARSL):c.1251C>T (p.Thr417=) rs2089229219
NM_000047.3(ARSL):c.1272C>A (p.Gly424=) rs377070602
NM_000047.3(ARSL):c.1284G>A (p.Gln428=) rs2518319536
NM_000047.3(ARSL):c.1357C>T (p.Leu453=) rs766628992
NM_000047.3(ARSL):c.1368T>C (p.Tyr456=) rs2518316128
NM_000047.3(ARSL):c.1404A>G (p.Gln468=) rs2518316019
NM_000047.3(ARSL):c.1411+13G>A rs773973077
NM_000047.3(ARSL):c.1411+14C>A rs2518315955
NM_000047.3(ARSL):c.1412-13_1412-12del rs1200948596
NM_000047.3(ARSL):c.1412-16A>T rs2518312070
NM_000047.3(ARSL):c.1434C>T (p.His478=) rs1217150288
NM_000047.3(ARSL):c.1437T>C (p.Phe479=) rs2518311905
NM_000047.3(ARSL):c.1443G>C (p.Thr481=) rs780330895
NM_000047.3(ARSL):c.1497G>C (p.Pro499=) rs75821383
NM_000047.3(ARSL):c.1518C>A (p.Val506=) rs2518311556
NM_000047.3(ARSL):c.1524C>T (p.His508=) rs762734231
NM_000047.3(ARSL):c.1581A>G (p.Thr527=) rs747510606
NM_000047.3(ARSL):c.1611G>A (p.Val537=) rs1603461557
NM_000047.3(ARSL):c.1620A>G (p.Arg540=) rs2518311202
NM_000047.3(ARSL):c.1626G>A (p.Gln542=) rs1458028473
NM_000047.3(ARSL):c.1632G>C (p.Ala544=)
NM_000047.3(ARSL):c.1635G>A (p.Val545=) rs2518311107
NM_000047.3(ARSL):c.1659C>T (p.Ser553=) rs2089175667
NM_000047.3(ARSL):c.1665T>C (p.Val555=) rs1372178914
NM_000047.3(ARSL):c.1677G>A (p.Leu559=)
NM_000047.3(ARSL):c.168T>C (p.Tyr56=) rs2089554358
NM_000047.3(ARSL):c.185+13G>C rs2518384648
NM_000047.3(ARSL):c.185+20T>C rs768507333
NM_000047.3(ARSL):c.186-4A>G
NM_000047.3(ARSL):c.186-6C>T rs2518376867
NM_000047.3(ARSL):c.222G>A (p.Val74=) rs2518376608
NM_000047.3(ARSL):c.237C>T (p.His79=) rs2518376577
NM_000047.3(ARSL):c.24-12A>C rs766142853
NM_000047.3(ARSL):c.24-12A>G rs766142853
NM_000047.3(ARSL):c.27G>A (p.Leu9=) rs749976358
NM_000047.3(ARSL):c.282C>T (p.Leu94=) rs2518376417
NM_000047.3(ARSL):c.307+18A>G rs769957768
NM_000047.3(ARSL):c.307+19C>G rs2518376207
NM_000047.3(ARSL):c.308-12_308-10del rs2518369690
NM_000047.3(ARSL):c.348C>G (p.Thr116=) rs751900621
NM_000047.3(ARSL):c.372A>C (p.Thr124=) rs2518369342
NM_000047.3(ARSL):c.430+19G>C rs909186773
NM_000047.3(ARSL):c.430+9G>A rs201397574
NM_000047.3(ARSL):c.431-16C>T rs2518359153
NM_000047.3(ARSL):c.431-8C>T rs2518359128
NM_000047.3(ARSL):c.483C>T (p.His161=)
NM_000047.3(ARSL):c.610C>T (p.Leu204=)
NM_000047.3(ARSL):c.639A>G (p.Ala213=) rs2518358140
NM_000047.3(ARSL):c.663C>T (p.Pro221=) rs2089433147
NM_000047.3(ARSL):c.669G>A (p.Ser223=) rs1196763532
NM_000047.3(ARSL):c.678G>A (p.Pro226=) rs773012594
NM_000047.3(ARSL):c.681C>T (p.Val227=) rs1164820801
NM_000047.3(ARSL):c.750T>C (p.His250=) rs142332875
NM_000047.3(ARSL):c.753C>G (p.Ala251=) rs756226879
NM_000047.3(ARSL):c.756T>C (p.Asp252=) rs2518357197
NM_000047.3(ARSL):c.763C>T (p.Leu255=) rs752855655
NM_000047.3(ARSL):c.78A>T (p.Ala26=) rs35718384
NM_000047.3(ARSL):c.801C>T (p.Cys267=) rs2518356945
NM_000047.3(ARSL):c.819C>G (p.Pro273=) rs763836878
NM_000047.3(ARSL):c.819C>T (p.Pro273=) rs763836878
NM_000047.3(ARSL):c.854+16T>C rs2518356487
NM_000047.3(ARSL):c.855-15C>G
NM_000047.3(ARSL):c.909T>C (p.Pro303=) rs2518346644
NM_000047.3(ARSL):c.951G>A (p.Gly317=) rs2518346368
NM_000047.3(ARSL):c.954G>C (p.Leu318=) rs2518346354
NM_000047.3(ARSL):c.960G>A (p.Gly320=) rs2518346301
NM_000047.3(ARSL):c.969A>C (p.Val323=) rs919149097
NM_000047.3(ARSL):c.981C>T (p.Asp327=) rs2518346135
NM_000047.3(ARSL):c.991+10C>A rs770096568
NM_000047.3(ARSL):c.991+17G>A rs2089373068
NM_000047.3(ARSL):c.992-13C>A rs762523242

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