ClinVar Miner

List of variants reported as uncertain significance for Ectopia lentis 2, isolated, autosomal recessive

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ClinVar version:
Total variants: 125
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HGVS dbSNP gnomAD frequency
NM_019032.6(ADAMTSL4):c.2121G>A (p.Ala707=) rs41317525 0.00968
NM_019032.6(ADAMTSL4):c.292C>T (p.Arg98Trp) rs148393631 0.00134
NM_019032.6(ADAMTSL4):c.2944-7G>A rs193025475 0.00111
NM_019032.6(ADAMTSL4):c.*640C>A rs776897541 0.00110
NM_019032.6(ADAMTSL4):c.2040C>T (p.Cys680=) rs140005044 0.00066
NM_019032.6(ADAMTSL4):c.2883C>G (p.Ala961=) rs148110558 0.00062
NM_019032.6(ADAMTSL4):c.*670C>G rs774586242 0.00051
NM_019032.6(ADAMTSL4):c.749G>A (p.Arg250Gln) rs145673891 0.00051
NM_019032.6(ADAMTSL4):c.2702G>A (p.Arg901His) rs146323215 0.00050
NM_019032.6(ADAMTSL4):c.1892C>T (p.Pro631Leu) rs142312610 0.00044
NM_019032.6(ADAMTSL4):c.2687G>A (p.Arg896Gln) rs143576162 0.00040
NM_019032.6(ADAMTSL4):c.232C>T (p.Leu78Phe) rs147688134 0.00034
NM_019032.6(ADAMTSL4):c.2559+9G>A rs12049100 0.00033
NM_019032.6(ADAMTSL4):c.162C>T (p.Ala54=) rs150631268 0.00031
NM_019032.6(ADAMTSL4):c.1142C>G (p.Pro381Arg) rs145639662 0.00029
NM_019032.6(ADAMTSL4):c.2190C>T (p.Gly730=) rs373005024 0.00029
NM_019032.6(ADAMTSL4):c.2354A>G (p.His785Arg) rs145309619 0.00029
NM_019032.6(ADAMTSL4):c.1483G>A (p.Gly495Arg) rs139551885 0.00024
NM_019032.6(ADAMTSL4):c.2223C>T (p.Pro741=) rs587696191 0.00024
NM_019032.6(ADAMTSL4):c.3078C>G (p.Ser1026Arg) rs142547900 0.00024
NM_019032.6(ADAMTSL4):c.2279C>T (p.Ser760Leu) rs146017344 0.00020
NM_019032.6(ADAMTSL4):c.1862-11C>T rs201593004 0.00019
NM_019032.6(ADAMTSL4):c.2311C>T (p.Arg771Trp) rs149017342 0.00019
NM_019032.6(ADAMTSL4):c.1032C>T (p.Asn344=) rs370107497 0.00018
NM_019032.6(ADAMTSL4):c.2120C>T (p.Ala707Val) rs200834788 0.00016
NM_019032.6(ADAMTSL4):c.2560-5C>T rs372471612 0.00016
NM_019032.6(ADAMTSL4):c.2425C>T (p.Arg809Cys) rs143844555 0.00014
NM_019032.6(ADAMTSL4):c.1683C>T (p.Pro561=) rs761623610 0.00013
NM_019032.6(ADAMTSL4):c.2591G>A (p.Arg864Gln) rs143983374 0.00013
NM_019032.6(ADAMTSL4):c.2341C>T (p.Arg781Cys) rs149442347 0.00012
NM_019032.6(ADAMTSL4):c.514C>T (p.Arg172Cys) rs375564357 0.00012
NM_019032.6(ADAMTSL4):c.1009G>A (p.Ala337Thr) rs374008923 0.00011
NM_019032.6(ADAMTSL4):c.2157C>T (p.His719=) rs752716704 0.00011
NM_019032.6(ADAMTSL4):c.1033G>A (p.Gly345Ser) rs587608856 0.00009
NM_019032.6(ADAMTSL4):c.2944-8C>T rs372461420 0.00009
NM_019032.6(ADAMTSL4):c.2251C>T (p.Arg751Trp) rs371399521 0.00008
NM_019032.6(ADAMTSL4):c.2293C>T (p.Arg765Cys) rs139296719 0.00008
NM_019032.6(ADAMTSL4):c.2480C>T (p.Pro827Leu) rs146452550 0.00007
NM_019032.6(ADAMTSL4):c.2795G>A (p.Arg932His) rs202037366 0.00007
NM_019032.6(ADAMTSL4):c.2839G>A (p.Val947Met) rs145015450 0.00007
NM_019032.6(ADAMTSL4):c.1118C>A (p.Ala373Asp) rs749157895 0.00006
NM_019032.6(ADAMTSL4):c.1130C>A (p.Ala377Glu) rs756900218 0.00006
NM_019032.6(ADAMTSL4):c.1555C>T (p.Arg519Trp) rs369892162 0.00006
NM_019032.6(ADAMTSL4):c.2236C>T (p.Arg746Cys) rs751676813 0.00006
NM_019032.6(ADAMTSL4):c.2392C>T (p.Arg798Trp) rs763279620 0.00006
NM_019032.6(ADAMTSL4):c.2978G>A (p.Arg993Gln) rs752811128 0.00006
NM_019032.6(ADAMTSL4):c.748C>T (p.Arg250Trp) rs140535012 0.00006
NM_019032.6(ADAMTSL4):c.1957G>A (p.Ala653Thr) rs587687025 0.00005
NM_019032.6(ADAMTSL4):c.2457C>T (p.Ser819=) rs148812509 0.00005
NM_019032.6(ADAMTSL4):c.531C>T (p.Ser177=) rs199802790 0.00005
NM_019032.6(ADAMTSL4):c.*276G>A rs181259344 0.00004
NM_019032.6(ADAMTSL4):c.*333G>A rs587633776 0.00004
NM_019032.6(ADAMTSL4):c.1186T>C (p.Ser396Pro) rs775105543 0.00004
NM_019032.6(ADAMTSL4):c.1776C>T (p.Gly592=) rs749692173 0.00004
NM_019032.6(ADAMTSL4):c.1860G>A (p.Pro620=) rs754436821 0.00004
NM_019032.6(ADAMTSL4):c.2107C>T (p.Arg703Cys) rs587737331 0.00004
NM_019032.6(ADAMTSL4):c.2703C>T (p.Arg901=) rs139006349 0.00004
NM_019032.6(ADAMTSL4):c.2849C>T (p.Pro950Leu) rs146081960 0.00004
NM_019032.6(ADAMTSL4):c.2918G>A (p.Arg973Gln) rs587619905 0.00004
NM_019032.6(ADAMTSL4):c.3199G>C (p.Glu1067Gln) rs587758883 0.00004
NM_019032.6(ADAMTSL4):c.455T>A (p.Ile152Asn) rs746798490 0.00004
NM_019032.6(ADAMTSL4):c.*439C>T rs765072914 0.00003
NM_019032.6(ADAMTSL4):c.1378G>A (p.Gly460Ser) rs587749107 0.00003
NM_019032.6(ADAMTSL4):c.1534C>T (p.Arg512Trp) rs773512669 0.00003
NM_019032.6(ADAMTSL4):c.2080C>T (p.Arg694Cys) rs749020217 0.00003
NM_019032.6(ADAMTSL4):c.88G>A (p.Gly30Arg) rs755040821 0.00003
NM_019032.6(ADAMTSL4):c.-100G>A rs886045266 0.00002
NM_019032.6(ADAMTSL4):c.1419C>T (p.Gly473=) rs374968441 0.00002
NM_019032.6(ADAMTSL4):c.1464G>A (p.Ser488=) rs587675749 0.00002
NM_019032.6(ADAMTSL4):c.2483C>T (p.Pro828Leu) rs587654643 0.00002
NM_019032.6(ADAMTSL4):c.2640G>A (p.Gln880=) rs140825395 0.00002
NM_019032.6(ADAMTSL4):c.2737C>T (p.Arg913Cys) rs587652739 0.00002
NM_019032.6(ADAMTSL4):c.2758G>A (p.Gly920Ser) rs1003230172 0.00002
NM_019032.6(ADAMTSL4):c.3148G>A (p.Val1050Ile) rs201941243 0.00002
NM_019032.6(ADAMTSL4):c.87C>T (p.Ser29=) rs202059899 0.00002
NM_019032.6(ADAMTSL4):c.*674C>T rs886045272 0.00001
NM_019032.6(ADAMTSL4):c.-236C>T rs1218791223 0.00001
NM_019032.6(ADAMTSL4):c.1131G>A (p.Ala377=) rs749108523 0.00001
NM_019032.6(ADAMTSL4):c.1160G>A (p.Arg387Gln) rs906984629 0.00001
NM_019032.6(ADAMTSL4):c.1301C>T (p.Thr434Ile) rs1380934079 0.00001
NM_019032.6(ADAMTSL4):c.1388G>C (p.Gly463Ala) rs1245899863 0.00001
NM_019032.6(ADAMTSL4):c.1676G>A (p.Arg559His) rs775141488 0.00001
NM_019032.6(ADAMTSL4):c.1874T>G (p.Val625Gly) rs1277524910 0.00001
NM_019032.6(ADAMTSL4):c.1936G>A (p.Val646Met) rs765795619 0.00001
NM_019032.6(ADAMTSL4):c.1994C>T (p.Ala665Val) rs773323206 0.00001
NM_019032.6(ADAMTSL4):c.2559+8C>T rs587720574 0.00001
NM_019032.6(ADAMTSL4):c.2691C>G (p.Pro897=) rs911349930 0.00001
NM_019032.6(ADAMTSL4):c.2848C>T (p.Pro950Ser) rs1237642624 0.00001
NM_019032.6(ADAMTSL4):c.2882C>T (p.Ala961Val) rs587695953 0.00001
NM_019032.6(ADAMTSL4):c.2963G>C (p.Gly988Ala) rs200172019 0.00001
NM_019032.6(ADAMTSL4):c.3020G>A (p.Arg1007Gln) rs776456026 0.00001
NM_019032.6(ADAMTSL4):c.*305G>A rs1672659004
NM_019032.6(ADAMTSL4):c.*332A>G rs886045270
NM_019032.6(ADAMTSL4):c.*407C>T rs745843292
NM_019032.6(ADAMTSL4):c.*639C>G rs1383577904
NM_019032.6(ADAMTSL4):c.1000C>G (p.His334Asp) rs764480382
NM_019032.6(ADAMTSL4):c.1040A>G (p.His347Arg)
NM_019032.6(ADAMTSL4):c.1131+15G>A rs772312644
NM_019032.6(ADAMTSL4):c.1159C>G (p.Arg387Gly) rs763308439
NM_019032.6(ADAMTSL4):c.1249C>T (p.Arg417Cys)
NM_019032.6(ADAMTSL4):c.1289A>G (p.Tyr430Cys)
NM_019032.6(ADAMTSL4):c.1372-5_1372-2del rs1560294823
NM_019032.6(ADAMTSL4):c.1551G>C (p.Gln517His) rs768007899
NM_019032.6(ADAMTSL4):c.1577-5C>T rs587612641
NM_019032.6(ADAMTSL4):c.1659del (p.Val554fs) rs1560296572
NM_019032.6(ADAMTSL4):c.1777G>A (p.Val593Ile) rs757656099
NM_019032.6(ADAMTSL4):c.1859C>T (p.Pro620Leu)
NM_019032.6(ADAMTSL4):c.1985G>A (p.Gly662Glu) rs886045268
NM_019032.6(ADAMTSL4):c.1997C>T (p.Ala666Val)
NM_019032.6(ADAMTSL4):c.2041G>A (p.Gly681Arg)
NM_019032.6(ADAMTSL4):c.2265G>T (p.Gly755=) rs780658812
NM_019032.6(ADAMTSL4):c.2266G>A (p.Gly756Arg)
NM_019032.6(ADAMTSL4):c.2276C>T (p.Ser759Phe)
NM_019032.6(ADAMTSL4):c.2312G>A (p.Arg771Gln) rs187309656
NM_019032.6(ADAMTSL4):c.2440A>G (p.Asn814Asp)
NM_019032.6(ADAMTSL4):c.2442T>G (p.Asn814Lys) rs10888382
NM_019032.6(ADAMTSL4):c.2625C>T (p.Ala875=) rs778403669
NM_019032.6(ADAMTSL4):c.2950C>T (p.Arg984Cys)
NM_019032.6(ADAMTSL4):c.2977C>T (p.Arg993Trp)
NM_019032.6(ADAMTSL4):c.2980G>A (p.Glu994Lys)
NM_019032.6(ADAMTSL4):c.3038G>A (p.Arg1013Gln) rs144461282
NM_019032.6(ADAMTSL4):c.3155C>T (p.Pro1052Leu)
NM_019032.6(ADAMTSL4):c.420T>C (p.Ile140=) rs1671621265
NM_019032.6(ADAMTSL4):c.569G>T (p.Gly190Val) rs1671664323
NM_019032.6(ADAMTSL4):c.595C>T (p.Pro199Ser)

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