ClinVar Miner

List of variants reported as uncertain significance for autosomal recessive inherited pseudoxanthoma elasticum

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 234
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001171.6(ABCC6):c.1171A>G (p.Arg391Gly) rs72653762 0.00459
NM_001171.6(ABCC6):c.742C>T (p.Leu248Phe) rs72653756 0.00214
NM_001171.6(ABCC6):c.2659C>T (p.Arg887Cys) rs59206042 0.00094
NM_001171.6(ABCC6):c.2306G>A (p.Arg769Lys) rs57794451 0.00089
NM_001171.6(ABCC6):c.3978C>T (p.Asp1326=) rs57499803 0.00067
NM_001171.6(ABCC6):c.2359G>A (p.Val787Ile) rs72653792 0.00044
NM_001171.6(ABCC6):c.2848G>A (p.Ala950Thr) rs72657689 0.00037
NM_001171.6(ABCC6):c.1703T>C (p.Phe568Ser) rs66864704 0.00036
NM_001171.6(ABCC6):c.1108A>G (p.Asn370Asp) rs72653760 0.00030
NM_001171.6(ABCC6):c.496C>T (p.Arg166Cys) rs201766106 0.00028
NM_001171.6(ABCC6):c.1990C>T (p.Pro664Ser) rs59002125 0.00027
NM_001171.6(ABCC6):c.2247+22T>G rs72664298 0.00021
NM_022166.4(XYLT1):c.1756C>T (p.Arg586Cys) rs139179946 0.00021
NM_001171.6(ABCC6):c.3979G>A (p.Gly1327Arg) rs79536709 0.00017
NM_001171.6(ABCC6):c.1424A>T (p.His475Leu) rs151187637 0.00016
NM_001171.6(ABCC6):c.2074G>A (p.Ala692Thr) rs151272575 0.00016
NM_001171.6(ABCC6):c.1060G>A (p.Val354Met) rs372132926 0.00015
NM_001171.6(ABCC6):c.1285G>A (p.Gly429Arg) rs978346965 0.00015
NM_001171.6(ABCC6):c.3431C>T (p.Ala1144Val) rs145553069 0.00012
NM_001171.6(ABCC6):c.1120C>G (p.Leu374Val) rs370022963 0.00011
NM_001171.6(ABCC6):c.1465C>T (p.Arg489Trp) rs754360599 0.00011
NM_001171.6(ABCC6):c.2140G>A (p.Gly714Arg) rs200513114 0.00011
NM_001171.6(ABCC6):c.3802C>T (p.Arg1268Trp) rs368379895 0.00011
NM_001171.6(ABCC6):c.1963C>A (p.Gln655Lys) rs369410139 0.00009
NM_001171.6(ABCC6):c.2415A>G (p.Thr805=) rs748500639 0.00009
NM_001171.6(ABCC6):c.2660G>A (p.Arg887His) rs201334880 0.00009
NM_001171.6(ABCC6):c.2782G>A (p.Gly928Ser) rs142470921 0.00009
NM_001171.6(ABCC6):c.4070G>A (p.Arg1357Gln) rs201275608 0.00009
NM_001171.6(ABCC6):c.2059G>A (p.Val687Met) rs368806440 0.00008
NM_001171.6(ABCC6):c.2635G>A (p.Ala879Thr) rs377008733 0.00008
NM_001171.6(ABCC6):c.1324G>A (p.Val442Ile) rs372059636 0.00007
NM_001171.6(ABCC6):c.2119G>A (p.Val707Met) rs372121585 0.00007
NM_001171.6(ABCC6):c.1843G>A (p.Val615Ile) rs372235202 0.00006
NM_001171.6(ABCC6):c.191G>A (p.Arg64Gln) rs777566074 0.00006
NM_001171.6(ABCC6):c.2409G>C (p.Gln803His) rs116898670 0.00006
NM_001171.6(ABCC6):c.2542del (p.Met848fs) rs67867306 0.00006
NM_001171.6(ABCC6):c.2922C>A (p.Asp974Glu) rs749463148 0.00006
NM_001171.6(ABCC6):c.3458G>A (p.Arg1153His) rs553479685 0.00006
NM_001171.6(ABCC6):c.3691G>A (p.Val1231Met) rs141728905 0.00006
NM_001171.6(ABCC6):c.3836C>T (p.Pro1279Leu) rs77913024 0.00006
NM_001171.6(ABCC6):c.4210G>A (p.Val1404Met) rs200485267 0.00006
NM_001171.6(ABCC6):c.4477T>C (p.Phe1493Leu) rs778956327 0.00006
NM_001171.6(ABCC6):c.2650G>A (p.Glu884Lys) rs138049574 0.00005
NM_001171.6(ABCC6):c.3457C>T (p.Arg1153Cys) rs762758350 0.00005
NM_001171.6(ABCC6):c.841A>G (p.Lys281Glu) rs879274205 0.00005
NM_001171.6(ABCC6):c.1780-11G>A rs532189625 0.00004
NM_001171.6(ABCC6):c.1798C>T (p.Arg600Cys) rs72653777 0.00004
NM_001171.6(ABCC6):c.2125G>A (p.Glu709Lys) rs114303883 0.00004
NM_001171.6(ABCC6):c.259G>A (p.Val87Met) rs1021031399 0.00004
NM_001171.6(ABCC6):c.3043C>T (p.Arg1015Trp) rs756768329 0.00004
NM_001171.6(ABCC6):c.3320T>C (p.Val1107Ala) rs780276741 0.00004
NM_001171.6(ABCC6):c.3460G>A (p.Val1154Ile) rs147794514 0.00004
NM_001171.6(ABCC6):c.3787G>A (p.Gly1263Arg) rs760376992 0.00004
NM_001171.6(ABCC6):c.4069C>T (p.Arg1357Trp) rs63750428 0.00004
NM_001171.6(ABCC6):c.4130C>T (p.Thr1377Met) rs371122482 0.00004
NM_001171.6(ABCC6):c.4294G>A (p.Val1432Met) rs531418668 0.00004
NM_001171.6(ABCC6):c.4382G>A (p.Arg1461His) rs57288618 0.00004
NM_001171.6(ABCC6):c.4441G>A (p.Gly1481Ser) rs63751279 0.00004
NM_001171.6(ABCC6):c.113G>C (p.Trp38Ser) rs72653752 0.00003
NM_001171.6(ABCC6):c.1264G>A (p.Glu422Lys) rs770532500 0.00003
NM_001171.6(ABCC6):c.1318T>G (p.Cys440Gly) rs72653766 0.00003
NM_001171.6(ABCC6):c.1577G>A (p.Arg526Gln) rs761847996 0.00003
NM_001171.6(ABCC6):c.1652T>C (p.Phe551Ser) rs72653774 0.00003
NM_001171.6(ABCC6):c.2858T>A (p.Leu953His) rs72657700 0.00003
NM_001171.6(ABCC6):c.3106_3108del (p.Phe1036del) rs72664230 0.00003
NM_001171.6(ABCC6):c.3145T>G (p.Ser1049Ala) rs72657693 0.00003
NM_001171.6(ABCC6):c.3634-3C>A rs72664212 0.00003
NM_001171.6(ABCC6):c.3997G>A (p.Val1333Met) rs142505247 0.00003
NM_001171.6(ABCC6):c.469G>A (p.Gly157Arg) rs1209940471 0.00003
NM_022166.4(XYLT1):c.2807C>T (p.Thr936Met) rs768752782 0.00003
NM_001171.6(ABCC6):c.1088A>C (p.Gln363Pro) rs944015667 0.00002
NM_001171.6(ABCC6):c.1491C>A (p.Asn497Lys) rs72653770 0.00002
NM_001171.6(ABCC6):c.1735A>G (p.Lys579Glu) rs749017755 0.00002
NM_001171.6(ABCC6):c.1774G>A (p.Val592Ile) rs190761354 0.00002
NM_001171.6(ABCC6):c.2237T>C (p.Ile746Thr) rs769753486 0.00002
NM_001171.6(ABCC6):c.2342C>T (p.Ala781Val) rs72653791 0.00002
NM_001171.6(ABCC6):c.2387T>C (p.Ile796Thr) rs776463091 0.00002
NM_001171.6(ABCC6):c.2428G>A (p.Val810Met) rs72653795 0.00002
NM_001171.6(ABCC6):c.268G>A (p.Ala90Thr) rs957828732 0.00002
NM_001171.6(ABCC6):c.3188T>G (p.Leu1063Arg) rs72657695 0.00002
NM_001171.6(ABCC6):c.3506+15G>A rs72664302 0.00002
NM_001171.6(ABCC6):c.3586C>G (p.His1196Asp) rs146284800 0.00002
NM_001171.6(ABCC6):c.3723G>C (p.Trp1241Cys) rs72657701 0.00002
NM_001171.6(ABCC6):c.3853G>A (p.Val1285Met) rs141731889 0.00002
NM_001171.6(ABCC6):c.3882+5G>A rs774245200 0.00002
NM_001171.6(ABCC6):c.3883-6G>A rs72664214 0.00002
NM_001171.6(ABCC6):c.4241G>A (p.Arg1414His) rs775319351 0.00002
NM_001171.6(ABCC6):c.1144C>T (p.Arg382Trp) rs72653761 0.00001
NM_001171.6(ABCC6):c.1199C>T (p.Ser400Phe) rs747386965 0.00001
NM_001171.6(ABCC6):c.1243G>A (p.Val415Met) rs200582171 0.00001
NM_001171.6(ABCC6):c.1258C>G (p.Leu420Val) rs746428588 0.00001
NM_001171.6(ABCC6):c.130C>G (p.Leu44Val) rs940803158 0.00001
NM_001171.6(ABCC6):c.1526C>G (p.Ala509Gly) rs779408186 0.00001
NM_001171.6(ABCC6):c.1603T>C (p.Ser535Pro) rs72653773 0.00001
NM_001171.6(ABCC6):c.1649T>C (p.Val550Ala) rs914084997 0.00001
NM_001171.6(ABCC6):c.1699G>A (p.Ala567Thr) rs143092672 0.00001
NM_001171.6(ABCC6):c.1760C>G (p.Ser587Cys) rs527236047 0.00001
NM_001171.6(ABCC6):c.1814T>C (p.Leu605Pro) rs768271196 0.00001
NM_001171.6(ABCC6):c.1868-5T>G rs72664207 0.00001
NM_001171.6(ABCC6):c.2070+5G>A rs72664208 0.00001
NM_001171.6(ABCC6):c.2086G>A (p.Val696Met) rs143731811 0.00001
NM_001171.6(ABCC6):c.2096A>G (p.Glu699Gly) rs1252723064 0.00001
NM_001171.6(ABCC6):c.2248G>A (p.Gly750Ser) rs1192373126 0.00001
NM_001171.6(ABCC6):c.2261C>G (p.Ser754Cys) rs866196138 0.00001
NM_001171.6(ABCC6):c.24C>A (p.Cys8Ter) rs1412967184 0.00001
NM_001171.6(ABCC6):c.2501T>C (p.Met834Thr) rs1355752953 0.00001
NM_001171.6(ABCC6):c.2530A>C (p.Lys844Gln) rs201884545 0.00001
NM_001171.6(ABCC6):c.2643G>T (p.Arg881Ser) rs72653800 0.00001
NM_001171.6(ABCC6):c.2882C>T (p.Ser961Phe) rs987609654 0.00001
NM_001171.6(ABCC6):c.2891G>C (p.Arg964Pro) rs72657691 0.00001
NM_001171.6(ABCC6):c.2965G>A (p.Gly989Arg) rs529676674 0.00001
NM_001171.6(ABCC6):c.3074T>C (p.Leu1025Pro) rs1555509499 0.00001
NM_001171.6(ABCC6):c.3370T>C (p.Cys1124Arg) rs1555508972 0.00001
NM_001171.6(ABCC6):c.3380T>C (p.Met1127Thr) rs63749998 0.00001
NM_001171.6(ABCC6):c.3381G>A (p.Met1127Ile) rs63750758 0.00001
NM_001171.6(ABCC6):c.3488C>T (p.Pro1163Leu) rs142128765 0.00001
NM_001171.6(ABCC6):c.3770C>A (p.Pro1257His) rs576328904 0.00001
NM_001171.6(ABCC6):c.3977A>G (p.Asp1326Gly) rs929166866 0.00001
NM_001171.6(ABCC6):c.4036C>T (p.Pro1346Ser) rs63751112 0.00001
NM_001171.6(ABCC6):c.4081G>A (p.Asp1361Asn) rs58695352 0.00001
NM_001171.6(ABCC6):c.4189G>A (p.Asp1397Asn) rs749035807 0.00001
NM_001171.6(ABCC6):c.4253G>A (p.Arg1418Gln) rs63751262 0.00001
NM_001171.6(ABCC6):c.4375C>T (p.Arg1459Cys) rs72547524 0.00001
NM_001171.6(ABCC6):c.4381C>T (p.Arg1461Cys) rs1030872147 0.00001
NM_001171.6(ABCC6):c.560C>T (p.Ala187Val) rs561266462 0.00001
NM_001171.6(ABCC6):c.751C>T (p.Arg251Trp) rs199645691 0.00001
NM_022167.4(XYLT2):c.341C>T (p.Pro114Leu) rs754863487 0.00001
NM_001171.5(ABCC6):c.144_795-3del
NM_001171.5(ABCC6):c.220_222del rs72664225
NM_001171.5(ABCC6):c.2996-1724_4209-478del
NM_001171.5(ABCC6):c.2996-?_4208+?del
NM_001171.5(ABCC6):c.3307-?_3735+?del
NM_001171.5(ABCC6):c.3307-?_3882+?del
NM_001171.6(ABCC6):c.1133A>C (p.Gln378Pro) rs1555518390
NM_001171.6(ABCC6):c.1176G>C (p.Lys392Asn) rs72653763
NM_001171.6(ABCC6):c.118C>T (p.Pro40Ser) rs778544828
NM_001171.6(ABCC6):c.11C>A (p.Pro4His) rs1555523872
NM_001171.6(ABCC6):c.1214C>T (p.Ala405Val) rs115663615
NM_001171.6(ABCC6):c.1232_1233delinsGC (p.Asn411Ser) rs2152278438
NM_001171.6(ABCC6):c.1233T>G (p.Asn411Lys) rs9930886
NM_001171.6(ABCC6):c.1244T>C (p.Val415Ala) rs72653765
NM_001171.6(ABCC6):c.1291T>C (p.Trp431Arg) rs2048112873
NM_001171.6(ABCC6):c.1363G>C (p.Ala455Pro) rs67996819
NM_001171.6(ABCC6):c.1388T>A (p.Leu463His) rs72653767
NM_001171.6(ABCC6):c.1396A>T (p.Asn466Tyr) rs1555515781
NM_001171.6(ABCC6):c.1432-22C>A rs72664297
NM_001171.6(ABCC6):c.148A>G (p.Ile50Val)
NM_001171.6(ABCC6):c.1498A>C (p.Thr500Pro) rs1555514945
NM_001171.6(ABCC6):c.1501A>T (p.Ile501Phe) rs772952563
NM_001171.6(ABCC6):c.1505A>T (p.Lys502Met) rs72653771
NM_001171.6(ABCC6):c.1555G>A (p.Gly519Ser) rs2047802820
NM_001171.6(ABCC6):c.1563G>C (p.Glu521Asp) rs1555514899
NM_001171.6(ABCC6):c.1565T>C (p.Leu522Pro) rs1555514895
NM_001171.6(ABCC6):c.1570G>A (p.Ala524Thr) rs143588929
NM_001171.6(ABCC6):c.1570G>T (p.Ala524Ser) rs143588929
NM_001171.6(ABCC6):c.1576C>T (p.Arg526Trp)
NM_001171.6(ABCC6):c.1589T>C (p.Leu530Pro) rs774648925
NM_001171.6(ABCC6):c.1685T>C (p.Met562Thr) rs72653775
NM_001171.6(ABCC6):c.1780-2A>G rs1555514089
NM_001171.6(ABCC6):c.1799G>T (p.Arg600Leu) rs761433545
NM_001171.6(ABCC6):c.179_187del (p.Arg60_Tyr62del) rs74315110
NM_001171.6(ABCC6):c.182G>A (p.Gly61Asp) rs72657696
NM_001171.6(ABCC6):c.1901C>T (p.Ala634Val) rs1555513604
NM_001171.6(ABCC6):c.1964A>G (p.Gln655Arg) rs72653779
NM_001171.6(ABCC6):c.2104G>C (p.Val702Leu) rs893859633
NM_001171.6(ABCC6):c.2126A>G (p.Glu709Gly) rs1555513103
NM_001171.6(ABCC6):c.2131G>A (p.Val711Met) rs200800189
NM_001171.6(ABCC6):c.2131G>C (p.Val711Leu) rs200800189
NM_001171.6(ABCC6):c.2134T>C (p.Cys712Arg) rs140013237
NM_001171.6(ABCC6):c.2230A>C (p.Thr744Pro) rs1555513073
NM_001171.6(ABCC6):c.2248-12_2248-11del rs111113623
NM_001171.6(ABCC6):c.232G>A (p.Ala78Thr) rs2856597
NM_001171.6(ABCC6):c.2379C>G (p.Asn793Lys) rs1555512420
NM_001171.6(ABCC6):c.2419C>G (p.Arg807Gly) rs72653793
NM_001171.6(ABCC6):c.2488G>C (p.Ala830Pro) rs1555512158
NM_001171.6(ABCC6):c.2552T>C (p.Leu851Pro) rs72653799
NM_001171.6(ABCC6):c.2631C>A (p.Thr877=) rs72664285
NM_001171.6(ABCC6):c.2686G>A (p.Glu896Lys) rs775243858
NM_001171.6(ABCC6):c.26C>A (p.Ala9Glu) rs1555523855
NM_001171.6(ABCC6):c.2784C>T (p.Gly928=) rs749125777
NM_001171.6(ABCC6):c.2831C>T (p.Thr944Ile) rs72653801
NM_001171.6(ABCC6):c.2843T>C (p.Leu948Pro) rs1555510407
NM_001171.6(ABCC6):c.2855T>G (p.Phe952Cys) rs72657690
NM_001171.6(ABCC6):c.2855TCCTCT[1] (p.952FL[1]) rs767359198
NM_001171.6(ABCC6):c.2911T>C (p.Trp971Arg) rs1555510357
NM_001171.6(ABCC6):c.2943G>T (p.Gln981His) rs368465318
NM_001171.6(ABCC6):c.2974G>A (p.Gly992Arg) rs72657692
NM_001171.6(ABCC6):c.2974G>C (p.Gly992Arg) rs72657692
NM_001171.6(ABCC6):c.3032T>C (p.Leu1011Pro) rs1555509515
NM_001171.6(ABCC6):c.3119C>T (p.Pro1040Leu) rs1555509485
NM_001171.6(ABCC6):c.3124G>A (p.Gly1042Ser) rs1555509477
NM_001171.6(ABCC6):c.3143_3145del (p.Phe1048del) rs769437554
NM_001171.6(ABCC6):c.3188T>C (p.Leu1063Pro) rs72657695
NM_001171.6(ABCC6):c.3208G>C (p.Ala1070Pro) rs369518454
NM_001171.6(ABCC6):c.3306+5G>C rs369806278
NM_001171.6(ABCC6):c.3307-1006_3883-1050del
NM_001171.6(ABCC6):c.3307-38_3307-3delinsAGA rs1555508993
NM_001171.6(ABCC6):c.3326C>T (p.Ser1109Leu) rs758648156
NM_001171.6(ABCC6):c.3475A>G (p.Arg1159Gly) rs772050759
NM_001171.6(ABCC6):c.3608G>A (p.Gly1203Asp) rs63750607
NM_001171.6(ABCC6):c.3676C>A (p.Leu1226Ile) rs63750125
NM_001171.6(ABCC6):c.3686G>A (p.Ser1229Asn) rs940876455
NM_001171.6(ABCC6):c.37-21_37-12del rs1555523540
NM_001171.6(ABCC6):c.3715T>C (p.Tyr1239His) rs63749992
NM_001171.6(ABCC6):c.3735G>A (p.Glu1245=) rs281865557
NM_001171.6(ABCC6):c.373G>A (p.Glu125Lys) rs879956688
NM_001171.6(ABCC6):c.3755C>T (p.Thr1252Ile) rs143212758
NM_001171.6(ABCC6):c.3818G>A (p.Arg1273Lys) rs63750209
NM_001171.6(ABCC6):c.3823_3870del (p.Arg1275_His1290del) rs74315128
NM_001171.6(ABCC6):c.3877G>A (p.Glu1293Lys) rs63750625
NM_001171.6(ABCC6):c.3880_3882del (p.Lys1294del) rs72664235
NM_001171.6(ABCC6):c.3883-10C>G rs965791272
NM_001171.6(ABCC6):c.3883-5G>A rs72664213
NM_001171.6(ABCC6):c.3932G>A (p.Gly1311Glu) rs63750992
NM_001171.6(ABCC6):c.3976G>T (p.Asp1326Tyr) rs766105758
NM_001171.6(ABCC6):c.3999G>A (p.Val1333=) rs63750235
NM_001171.6(ABCC6):c.4016G>T (p.Arg1339Leu) rs63750622
NM_001171.6(ABCC6):c.4048A>C (p.Ile1350Leu) rs72664288
NM_001171.6(ABCC6):c.4182G>A (p.Lys1394=) rs63750798
NM_001171.6(ABCC6):c.4191C>G (p.Asp1397Glu) rs1021172050
NM_001171.6(ABCC6):c.4271T>C (p.Ile1424Thr) rs63750295
NM_001171.6(ABCC6):c.4305C>T (p.Gly1435=) rs72664289
NM_001171.6(ABCC6):c.4324G>A (p.Ala1442Thr) rs1462269230
NM_001171.6(ABCC6):c.4377C>T (p.Arg1459=) rs63750763
NM_001171.6(ABCC6):c.4403+11C>G rs72664215
NM_001171.6(ABCC6):c.4448C>A (p.Pro1483Gln) rs63750135
NM_001171.6(ABCC6):c.4448C>T (p.Pro1483Leu) rs63750135
NM_001171.6(ABCC6):c.549G>A (p.Leu183=) rs72664281
NM_001171.6(ABCC6):c.619G>A (p.Gly207Arg) rs72657697
NM_001171.6(ABCC6):c.61C>T (p.Pro21Ser) rs1235912910
NM_001171.6(ABCC6):c.754C>T (p.Leu252Phe) rs72653757
NM_001171.6(ABCC6):c.766T>C (p.Trp256Arg) rs1555520136
NM_001171.6(ABCC6):c.795-131_795-3del rs1555518941
NM_001171.6(ABCC6):c.865_889del (p.Leu289fs) rs74315139

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