ClinVar Miner

List of variants studied for pseudoxanthoma elasticum, forme fruste

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 489
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001171.6(ABCC6):c.3633+100A>C rs3851721 0.97755
NM_001171.6(ABCC6):c.2787+62T>C rs11866320 0.97736
NM_001171.6(ABCC6):c.2788-127A>G rs7201980 0.97599
NM_001171.6(ABCC6):c.2788-154T>C rs6498608 0.97501
NM_001171.6(ABCC6):c.3882+85C>T rs3896244 0.97343
NM_001171.6(ABCC6):c.2542A>G (p.Met848Val) rs6416668 0.96848
NM_001171.6(ABCC6):c.1432-48G>A rs7193932 0.95000
NM_001171.6(ABCC6):c.1338+7C>G rs9940089 0.75013
NM_001171.6(ABCC6):c.1431+73C>G rs6498618 0.71456
NM_001171.6(ABCC6):c.1841T>C (p.Val614Ala) rs12931472 0.44841
NM_001171.6(ABCC6):c.1867+92G>A rs7192265 0.44653
NM_001171.6(ABCC6):c.1780-86G>T rs4369696 0.44514
NM_001171.6(ABCC6):c.1867+86T>C rs7192961 0.43963
NM_001171.6(ABCC6):c.1896C>A (p.His632Gln) rs8058694 0.43467
NM_001171.6(ABCC6):c.1890C>G (p.Thr630=) rs8058696 0.42733
NM_001171.6(ABCC6):c.4404-31A>G rs212097 0.35863
NM_001171.6(ABCC6):c.1233T>C (p.Asn411=) rs9930886 0.31672
NM_001171.6(ABCC6):c.1245G>A (p.Val415=) rs9940825 0.30255
NM_001171.6(ABCC6):c.1432-41A>G rs2239322 0.23891
NM_001171.6(ABCC6):c.1635+48C>T rs55707615 0.23698
NM_001171.6(ABCC6):c.1338+62C>G rs58394656 0.23048
NM_001171.6(ABCC6):c.3803G>A (p.Arg1268Gln) rs2238472 0.22903
NM_001171.6(ABCC6):c.3633+55C>T rs3213470 0.20050
NM_001171.6(ABCC6):c.3633+90G>A rs2376957 0.19271
NM_001171.6(ABCC6):c.2490C>T (p.Ala830=) rs9924755 0.17690
NM_001171.6(ABCC6):c.2835C>T (p.Pro945=) rs2856585 0.08929
NM_001171.6(ABCC6):c.793A>G (p.Arg265Gly) rs72657698 0.06836
NM_001171.6(ABCC6):c.*17G>A rs3902401 0.05552
NM_001171.6(ABCC6):c.3507-16T>C rs3213471 0.04995
NM_001171.6(ABCC6):c.645G>A (p.Thr215=) rs72664282 0.04543
NM_001171.6(ABCC6):c.3871G>A (p.Ala1291Thr) rs58694313 0.02791
NM_001171.6(ABCC6):c.2175A>T (p.Val725=) rs59757815 0.02503
NM_001171.6(ABCC6):c.2224A>G (p.Ile742Val) rs59593133 0.02501
NM_001171.6(ABCC6):c.662+12C>T rs1555520951 0.01842
NM_001171.6(ABCC6):c.2836C>A (p.Leu946Ile) rs61340537 0.01730
NM_001171.6(ABCC6):c.3190C>T (p.Arg1064Trp) rs41278174 0.01708
NM_001171.6(ABCC6):c.2171G>A (p.Arg724Lys) rs58073789 0.01638
NM_001171.6(ABCC6):c.1344G>A (p.Leu448=) rs58703366 0.01571
NM_001171.6(ABCC6):c.3507-3C>T rs41278172 0.01517
NM_001171.6(ABCC6):c.1077A>G (p.Ser359=) rs72664283 0.01355
NM_001171.6(ABCC6):c.474+13G>A rs111339199 0.01326
NM_001171.6(ABCC6):c.4208+9G>A rs58760581 0.01119
NM_001171.6(ABCC6):c.487G>A (p.Asp163Asn) rs192110266 0.00934
NM_001171.6(ABCC6):c.3289C>A (p.Leu1097Ile) rs60707953 0.00849
NM_001171.6(ABCC6):c.2067C>T (p.Ile689=) rs61266641 0.00789
NM_001171.6(ABCC6):c.4254G>A (p.Arg1418=) rs58668703 0.00784
NM_001171.6(ABCC6):c.2707G>C (p.Glu903Gln) rs60712230 0.00774
NM_001171.6(ABCC6):c.955A>G (p.Ile319Val) rs72657699 0.00744
NM_001171.6(ABCC6):c.1815C>T (p.Leu605=) rs61318127 0.00732
NM_001171.6(ABCC6):c.3207C>T (p.Tyr1069=) rs60975032 0.00510
NM_001171.6(ABCC6):c.3883-24G>A rs59513011 0.00475
NM_001171.6(ABCC6):c.1171A>G (p.Arg391Gly) rs72653762 0.00459
NM_001171.6(ABCC6):c.1636-10C>T rs61480102 0.00335
NM_001171.6(ABCC6):c.1248C>T (p.Asp416=) rs143487365 0.00247
NM_001171.6(ABCC6):c.1284C>T (p.Asn428=) rs57499497 0.00245
NM_001171.6(ABCC6):c.742C>T (p.Leu248Phe) rs72653756 0.00214
NM_001171.6(ABCC6):c.3507-19C>T rs115016469 0.00209
NM_001171.6(ABCC6):c.*38G>A rs59461468 0.00206
NM_001171.6(ABCC6):c.2781C>T (p.Tyr927=) rs61731973 0.00153
NM_001171.6(ABCC6):c.3421C>T (p.Arg1141Ter) rs72653706 0.00122
NM_001171.6(ABCC6):c.1432-9C>T rs201633047 0.00108
NM_001171.6(ABCC6):c.2695C>T (p.Arg899Cys) rs11861980 0.00098
NM_001171.6(ABCC6):c.2659C>T (p.Arg887Cys) rs59206042 0.00094
NM_001171.6(ABCC6):c.1059C>T (p.Ala353=) rs150016641 0.00093
NM_001171.6(ABCC6):c.2306G>A (p.Arg769Lys) rs57794451 0.00089
NM_001171.6(ABCC6):c.2904G>A (p.Leu968=) rs72664287 0.00087
NM_001171.6(ABCC6):c.1353C>T (p.Ser451=) rs57546826 0.00086
NM_001171.6(ABCC6):c.1636-20G>A rs200894424 0.00073
NM_001171.6(ABCC6):c.3940C>T (p.Arg1314Trp) rs63750759 0.00069
NM_001171.6(ABCC6):c.1540G>A (p.Val514Ile) rs59157279 0.00049
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.3507-15C>T rs374776435 0.00034
NM_001171.6(ABCC6):c.4278C>T (p.Asp1426=) rs376210462 0.00033
NM_001171.6(ABCC6):c.1108A>G (p.Asn370Asp) rs72653760 0.00030
NM_001171.6(ABCC6):c.3892G>A (p.Val1298Ile) rs63751325 0.00029
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.3507-17G>A rs58571995 0.00026
NM_001171.6(ABCC6):c.396A>G (p.Ser132=) rs913912489 0.00025
NM_001171.6(ABCC6):c.3564G>A (p.Thr1188=) rs58494932 0.00024
NM_001171.6(ABCC6):c.4105G>A (p.Glu1369Lys) rs60285147 0.00021
NM_001171.6(ABCC6):c.1132C>T (p.Gln378Ter) rs72650699 0.00019
NM_001171.6(ABCC6):c.2787+1G>T rs72664209 0.00017
NM_001171.6(ABCC6):c.3979G>A (p.Gly1327Arg) rs79536709 0.00017
NM_001171.6(ABCC6):c.1312G>A (p.Val438Met) rs542502733 0.00016
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.4176G>A (p.Gln1392=) rs534017491 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.3363G>A (p.Ser1121=) rs145693403 0.00014
NM_001171.6(ABCC6):c.3306+5G>A rs369806278 0.00012
NM_001171.6(ABCC6):c.3431C>T (p.Ala1144Val) rs145553069 0.00012
NM_001171.6(ABCC6):c.3490C>T (p.Arg1164Ter) rs72653744 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.1553G>A (p.Arg518Gln) rs72653772 0.00011
NM_001171.6(ABCC6):c.2140G>A (p.Gly714Arg) rs200513114 0.00011
NM_001171.6(ABCC6):c.3524T>C (p.Val1175Ala) rs376062004 0.00011
NM_001171.6(ABCC6):c.3778C>G (p.Pro1260Ala) rs149151337 0.00011
NM_001171.6(ABCC6):c.3795C>T (p.Ile1265=) rs114175094 0.00011
NM_001171.6(ABCC6):c.3802C>T (p.Arg1268Trp) rs368379895 0.00011
NM_001171.6(ABCC6):c.3941G>A (p.Arg1314Gln) rs63751086 0.00011
NM_001171.6(ABCC6):c.1058C>T (p.Ala353Val) rs369074083 0.00010
NM_001171.6(ABCC6):c.890G>A (p.Arg297His) rs199729978 0.00010
NM_001171.6(ABCC6):c.1193G>T (p.Ser398Ile) rs769882654 0.00009
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.3024G>A (p.Ala1008=) rs372041663 0.00009
NM_001171.6(ABCC6):c.3341G>A (p.Arg1114His) rs63750427 0.00009
NM_001171.6(ABCC6):c.345+10C>T rs768002646 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.1338+16A>C rs764198351 0.00006
NM_001171.6(ABCC6):c.1569C>A (p.Gly523=) rs145764775 0.00006
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.2278C>T (p.Arg760Trp) rs72653788 0.00006
NM_001171.6(ABCC6):c.2294G>A (p.Arg765Gln) rs67561842 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.3389C>T (p.Thr1130Met) rs63750459 0.00006
NM_001171.6(ABCC6):c.3413G>A (p.Arg1138Gln) rs60791294 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.3725C>T (p.Thr1242Met) rs141449320 0.00006
NM_001171.6(ABCC6):c.3836C>T (p.Pro1279Leu) rs77913024 0.00006
NM_001171.6(ABCC6):c.3887G>A (p.Gly1296Asp) rs374086268 0.00006
NM_001171.6(ABCC6):c.4210G>A (p.Val1404Met) rs200485267 0.00006
NM_001171.6(ABCC6):c.4332C>T (p.Leu1444=) rs559653607 0.00006
NM_001171.6(ABCC6):c.4391T>C (p.Met1464Thr) rs774296589 0.00006
NM_001171.6(ABCC6):c.4404-5C>A rs58190361 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.3775del (p.Trp1259fs) rs72664233 0.00005
NM_001171.6(ABCC6):c.1249G>A (p.Val417Met) rs768869262 0.00004
NM_001171.6(ABCC6):c.1354G>A (p.Ala452Thr) rs761364455 0.00004
NM_001171.6(ABCC6):c.1552C>T (p.Arg518Ter) rs72650700 0.00004
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.2058C>T (p.Phe686=) rs57866002 0.00004
NM_001171.6(ABCC6):c.2125G>A (p.Glu709Lys) rs114303883 0.00004
NM_001171.6(ABCC6):c.2252T>A (p.Met751Lys) rs72653786 0.00004
NM_001171.6(ABCC6):c.2397T>G (p.Gly799=) rs770859081 0.00004
NM_001171.6(ABCC6):c.259G>A (p.Val87Met) rs1021031399 0.00004
NM_001171.6(ABCC6):c.2661C>T (p.Arg887=) rs376958386 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.3340C>T (p.Arg1114Cys) rs63749794 0.00004
NM_001171.6(ABCC6):c.3412C>T (p.Arg1138Trp) rs28939701 0.00004
NM_001171.6(ABCC6):c.3460G>A (p.Val1154Ile) rs147794514 0.00004
NM_001171.6(ABCC6):c.3704G>A (p.Arg1235Gln) rs138700741 0.00004
NM_001171.6(ABCC6):c.3787G>A (p.Gly1263Arg) rs760376992 0.00004
NM_001171.6(ABCC6):c.3870C>T (p.His1290=) rs760304927 0.00004
NM_001171.6(ABCC6):c.4130C>T (p.Thr1377Met) rs371122482 0.00004
NM_001171.6(ABCC6):c.4182del (p.Lys1394fs) rs67791546 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.1256G>A (p.Arg419Gln) rs772434460 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.1908C>T (p.Phe636=) rs767365625 0.00003
NM_001171.6(ABCC6):c.2263G>A (p.Gly755Arg) rs72653787 0.00003
NM_001171.6(ABCC6):c.2291C>T (p.Ala764Val) rs748000420 0.00003
NM_001171.6(ABCC6):c.2420G>A (p.Arg807Gln) rs72653794 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.3415G>A (p.Ala1139Thr) rs63750146 0.00003
NM_001171.6(ABCC6):c.3634-3C>A rs72664212 0.00003
NM_001171.6(ABCC6):c.3662G>A (p.Arg1221His) rs63751001 0.00003
NM_001171.6(ABCC6):c.3703C>T (p.Arg1235Trp) rs63750402 0.00003
NM_001171.6(ABCC6):c.3891C>T (p.Ile1297=) rs375741855 0.00003
NM_001171.6(ABCC6):c.3904G>A (p.Gly1302Arg) rs63749856 0.00003
NM_001171.6(ABCC6):c.3997G>A (p.Val1333Met) rs142505247 0.00003
NM_001171.6(ABCC6):c.4016G>A (p.Arg1339His) rs63750622 0.00003
NM_001171.6(ABCC6):c.4042-15G>A rs371489110 0.00003
NM_001171.6(ABCC6):c.4104del (p.Asp1368fs) rs72664237 0.00003
NM_001171.6(ABCC6):c.469G>A (p.Gly157Arg) rs1209940471 0.00003
NM_001171.6(ABCC6):c.1088A>C (p.Gln363Pro) rs944015667 0.00002
NM_001171.6(ABCC6):c.1460G>A (p.Arg487Gln) rs72653768 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.1780-17G>A rs547175985 0.00002
NM_001171.6(ABCC6):c.2237T>C (p.Ile746Thr) rs769753486 0.00002
NM_001171.6(ABCC6):c.2248-2_2248-1del rs111113624 0.00002
NM_001171.6(ABCC6):c.2342C>T (p.Ala781Val) rs72653791 0.00002
NM_001171.6(ABCC6):c.2419C>T (p.Arg807Trp) rs72653793 0.00002
NM_001171.6(ABCC6):c.2428G>A (p.Val810Met) rs72653795 0.00002
NM_001171.6(ABCC6):c.2649C>T (p.Pro883=) rs373335815 0.00002
NM_001171.6(ABCC6):c.3191G>A (p.Arg1064Gln) rs774796759 0.00002
NM_001171.6(ABCC6):c.3422G>A (p.Arg1141Gln) rs572351621 0.00002
NM_001171.6(ABCC6):c.3491G>A (p.Arg1164Gln) rs63750457 0.00002
NM_001171.6(ABCC6):c.3586C>G (p.His1196Asp) rs146284800 0.00002
NM_001171.6(ABCC6):c.3606G>A (p.Val1202=) rs766504801 0.00002
NM_001171.6(ABCC6):c.3661C>T (p.Arg1221Cys) rs63751215 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.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.1255C>T (p.Arg419Trp) rs775853778 0.00001
NM_001171.6(ABCC6):c.1258C>G (p.Leu420Val) rs746428588 0.00001
NM_001171.6(ABCC6):c.1261A>G (p.Thr421Ala) rs932396289 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.1575G>T (p.Leu525Phe) rs1348337015 0.00001
NM_001171.6(ABCC6):c.1635+5C>T rs545106514 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.1784G>A (p.Arg595Gln) rs762499171 0.00001
NM_001171.6(ABCC6):c.1812C>A (p.Phe604Leu) rs776483503 0.00001
NM_001171.6(ABCC6):c.1837G>A (p.Gly613Ser) rs369816256 0.00001
NM_001171.6(ABCC6):c.1868-5T>G rs72664207 0.00001
NM_001171.6(ABCC6):c.1872C>T (p.Ala624=) rs747341864 0.00001
NM_001171.6(ABCC6):c.2079G>A (p.Val693=) rs189252048 0.00001
NM_001171.6(ABCC6):c.2085C>T (p.Tyr695=) rs199913903 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.2261C>G (p.Ser754Cys) rs866196138 0.00001
NM_001171.6(ABCC6):c.2279G>A (p.Arg760Gln) rs769405586 0.00001
NM_001171.6(ABCC6):c.2396G>T (p.Gly799Val) rs775412517 0.00001
NM_001171.6(ABCC6):c.2477T>C (p.Leu826Pro) rs72653798 0.00001
NM_001171.6(ABCC6):c.2501T>C (p.Met834Thr) rs1355752953 0.00001
NM_001171.6(ABCC6):c.2521C>T (p.Leu841=) rs60990156 0.00001
NM_001171.6(ABCC6):c.2530A>C (p.Lys844Gln) rs201884545 0.00001
NM_001171.6(ABCC6):c.2591-1G>T rs1131691865 0.00001
NM_001171.6(ABCC6):c.2599C>T (p.Pro867Ser) rs376512808 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.2909T>A (p.Leu970Gln) rs776512349 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.3381G>A (p.Met1127Ile) rs63750758 0.00001
NM_001171.6(ABCC6):c.3411C>G (p.Val1137=) rs772396564 0.00001
NM_001171.6(ABCC6):c.3477G>A (p.Arg1159=) rs746045818 0.00001
NM_001171.6(ABCC6):c.3488C>T (p.Pro1163Leu) rs142128765 0.00001
NM_001171.6(ABCC6):c.3507-14G>A rs1006071217 0.00001
NM_001171.6(ABCC6):c.3507-1G>A rs72664210 0.00001
NM_001171.6(ABCC6):c.3604G>A (p.Val1202Met) rs752683023 0.00001
NM_001171.6(ABCC6):c.3612C>G (p.Phe1204Leu) rs1464733728 0.00001
NM_001171.6(ABCC6):c.37-1G>A rs72657702 0.00001
NM_001171.6(ABCC6):c.3735+10G>A rs372710375 0.00001
NM_001171.6(ABCC6):c.3736-1G>A rs63750273 0.00001
NM_001171.6(ABCC6):c.3770C>A (p.Pro1257His) rs576328904 0.00001
NM_001171.6(ABCC6):c.3823C>T (p.Arg1275Ter) rs72653749 0.00001
NM_001171.6(ABCC6):c.3837G>A (p.Pro1279=) rs61294695 0.00001
NM_001171.6(ABCC6):c.3971G>A (p.Trp1324Ter) rs72653750 0.00001
NM_001171.6(ABCC6):c.3977A>G (p.Asp1326Gly) rs929166866 0.00001
NM_001171.6(ABCC6):c.4189G>A (p.Asp1397Asn) rs749035807 0.00001
NM_001171.6(ABCC6):c.4218G>C (p.Gln1406His) rs149510465 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.4387G>A (p.Val1463Met) rs759407080 0.00001
NM_001171.6(ABCC6):c.4476G>C (p.Leu1492=) rs745761393 0.00001
NM_001171.6(ABCC6):c.560C>T (p.Ala187Val) rs561266462 0.00001
NM_001171.6(ABCC6):c.724G>T (p.Glu242Ter) rs72650697 0.00001
NM_001171.6(ABCC6):c.751C>T (p.Arg251Trp) rs199645691 0.00001
GRCh37/hg19 16p13.11(chr16:16248464-16259810)
NM_001171.6(ABCC6):c.1001T>G (p.Leu334Arg)
NM_001171.6(ABCC6):c.1016T>C (p.Ile339Thr)
NM_001171.6(ABCC6):c.1021G>C (p.Asp341His)
NM_001171.6(ABCC6):c.1060_1062delinsTTT (p.Val354Phe)
NM_001171.6(ABCC6):c.107G>A (p.Gly36Glu)
NM_001171.6(ABCC6):c.1087C>T (p.Gln363Ter) rs72650698
NM_001171.6(ABCC6):c.1088A>G (p.Gln363Arg)
NM_001171.6(ABCC6):c.1091C>G (p.Thr364Arg) rs72653759
NM_001171.6(ABCC6):c.1111A>G (p.Met371Val)
NM_001171.6(ABCC6):c.111C>G (p.Val37=)
NM_001171.6(ABCC6):c.1145G>A (p.Arg382Gln)
NM_001171.6(ABCC6):c.1214C>T (p.Ala405Val) rs115663615
NM_001171.6(ABCC6):c.1232A>G (p.Asn411Ser)
NM_001171.6(ABCC6):c.1232_1233delinsGC (p.Asn411Ser) rs2152278438
NM_001171.6(ABCC6):c.1234C>G (p.Leu412Val)
NM_001171.6(ABCC6):c.1242C>T (p.Ser414=)
NM_001171.6(ABCC6):c.126G>A (p.Met42Ile)
NM_001171.6(ABCC6):c.1288del (p.Leu430fs)
NM_001171.6(ABCC6):c.1291T>C (p.Trp431Arg) rs2048112873
NM_001171.6(ABCC6):c.1303G>A (p.Val435Ile)
NM_001171.6(ABCC6):c.1315G>A (p.Val439Ile)
NM_001171.6(ABCC6):c.1338+20C>G rs12929920
NM_001171.6(ABCC6):c.1345G>A (p.Gly449Arg)
NM_001171.6(ABCC6):c.1364C>T (p.Ala455Val)
NM_001171.6(ABCC6):c.1368C>T (p.Ile456=) rs141309818
NM_001171.6(ABCC6):c.1431+3T>G
NM_001171.6(ABCC6):c.1432-5C>T rs2152270212
NM_001171.6(ABCC6):c.1459C>T (p.Arg487Trp)
NM_001171.6(ABCC6):c.145C>G (p.Pro49Ala)
NM_001171.6(ABCC6):c.1462G>A (p.Ala488Thr)
NM_001171.6(ABCC6):c.1466G>A (p.Arg489Gln)
NM_001171.6(ABCC6):c.1471A>G (p.Thr491Ala)
NM_001171.6(ABCC6):c.148A>G (p.Ile50Val)
NM_001171.6(ABCC6):c.1501A>T (p.Ile501Phe) rs772952563
NM_001171.6(ABCC6):c.1506G>T (p.Lys502Asn)
NM_001171.6(ABCC6):c.1555G>A (p.Gly519Ser) rs2047802820
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.1611G>A (p.Val537=) rs1486197417
NM_001171.6(ABCC6):c.1636-3dup
NM_001171.6(ABCC6):c.1639G>T (p.Ala547Ser)
NM_001171.6(ABCC6):c.1674del (p.Glu559fs) rs1313008538
NM_001171.6(ABCC6):c.167A>G (p.His56Arg)
NM_001171.6(ABCC6):c.1685T>C (p.Met562Thr) rs72653775
NM_001171.6(ABCC6):c.170A>G (p.His57Arg)
NM_001171.6(ABCC6):c.1742A>C (p.Gln581Pro)
NM_001171.6(ABCC6):c.1763T>G (p.Ile588Ser)
NM_001171.6(ABCC6):c.1774G>C (p.Val592Leu)
NM_001171.6(ABCC6):c.17A>T (p.Glu6Val)
NM_001171.6(ABCC6):c.181G>A (p.Gly61Ser)
NM_001171.6(ABCC6):c.1867+60A>G rs8056103
NM_001171.6(ABCC6):c.1868-57G>A rs41278182
NM_001171.6(ABCC6):c.1868-85del rs55685226
NM_001171.6(ABCC6):c.1884C>A (p.Cys628Ter)
NM_001171.6(ABCC6):c.1885A>G (p.Ile629Val) rs1208037787
NM_001171.6(ABCC6):c.190C>T (p.Arg64Trp)
NM_001171.6(ABCC6):c.1966G>A (p.Gly656Ser)
NM_001171.6(ABCC6):c.196dup (p.Ser66fs) rs1064793538
NM_001171.6(ABCC6):c.1987G>A (p.Gly663Ser) rs72653780
NM_001171.6(ABCC6):c.1999del (p.Ala667fs) rs72664227
NM_001171.6(ABCC6):c.2095G>A (p.Glu699Lys)
NM_001171.6(ABCC6):c.2104G>C (p.Val702Leu) rs893859633
NM_001171.6(ABCC6):c.2106_2107delinsAG (p.Gln703Glu)
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.215A>G (p.Lys72Arg)
NM_001171.6(ABCC6):c.2162G>A (p.Trp721Ter) rs72650701
NM_001171.6(ABCC6):c.219+2T>C
NM_001171.6(ABCC6):c.219G>A (p.Met73Ile)
NM_001171.6(ABCC6):c.2207A>G (p.Asp736Gly)
NM_001171.6(ABCC6):c.2248G>T (p.Gly750Cys)
NM_001171.6(ABCC6):c.2329G>A (p.Asp777Asn) rs72653790
NM_001171.6(ABCC6):c.232G>A (p.Ala78Thr) rs2856597
NM_001171.6(ABCC6):c.2335C>A (p.Pro779Thr)
NM_001171.6(ABCC6):c.2336C>T (p.Pro779Leu)
NM_001171.6(ABCC6):c.2338del (p.Leu780fs) rs1596649191
NM_001171.6(ABCC6):c.2356C>A (p.His786Asn)
NM_001171.6(ABCC6):c.2368C>T (p.His790Tyr)
NM_001171.6(ABCC6):c.2395G>A (p.Gly799Ser)
NM_001171.6(ABCC6):c.2408A>G (p.Gln803Arg) rs933105824
NM_001171.6(ABCC6):c.2416-10C>A
NM_001171.6(ABCC6):c.2432C>T (p.Thr811Met) rs72653796
NM_001171.6(ABCC6):c.2536G>A (p.Ala846Thr)
NM_001171.6(ABCC6):c.2553G>A (p.Leu851=)
NM_001171.6(ABCC6):c.2569C>G (p.Pro857Ala)
NM_001171.6(ABCC6):c.2590G>T (p.Glu864Ter)
NM_001171.6(ABCC6):c.263C>T (p.Ala88Val)
NM_001171.6(ABCC6):c.2666+134del rs11295432
NM_001171.6(ABCC6):c.2666+1G>A
NM_001171.6(ABCC6):c.2678C>T (p.Ser893Leu)
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.26C>T (p.Ala9Val)
NM_001171.6(ABCC6):c.2738C>A (p.Pro913His)
NM_001171.6(ABCC6):c.2749G>C (p.Gly917Arg)
NM_001171.6(ABCC6):c.274T>C (p.Trp92Arg)
NM_001171.6(ABCC6):c.2758G>C (p.Ala920Pro)
NM_001171.6(ABCC6):c.2796del (p.Thr933fs)
NM_001171.6(ABCC6):c.2818C>T (p.Arg940Cys)
NM_001171.6(ABCC6):c.2827G>T (p.Gly943Cys)
NM_001171.6(ABCC6):c.2855TCCTCT[1] (p.952FL[1]) rs767359198
NM_001171.6(ABCC6):c.2890C>T (p.Arg964Trp)
NM_001171.6(ABCC6):c.2894G>A (p.Gly965Asp)
NM_001171.6(ABCC6):c.2917G>A (p.Asp973Asn)
NM_001171.6(ABCC6):c.2928A>C (p.Ala976=)
NM_001171.6(ABCC6):c.293C>T (p.Thr98Met)
NM_001171.6(ABCC6):c.2959C>T (p.Arg987Cys)
NM_001171.6(ABCC6):c.2960G>A (p.Arg987His)
NM_001171.6(ABCC6):c.301G>T (p.Ala101Ser)
NM_001171.6(ABCC6):c.3044G>A (p.Arg1015Gln)
NM_001171.6(ABCC6):c.3092C>G (p.Ser1031Cys) rs998685024
NM_001171.6(ABCC6):c.3107T>C (p.Phe1036Ser)
NM_001171.6(ABCC6):c.3143_3145del (p.Phe1048del) rs769437554
NM_001171.6(ABCC6):c.315del (p.Ile106fs)
NM_001171.6(ABCC6):c.3184A>G (p.Lys1062Glu)
NM_001171.6(ABCC6):c.3205T>G (p.Tyr1069Asp)
NM_001171.6(ABCC6):c.3208G>A (p.Ala1070Thr)
NM_001171.6(ABCC6):c.3226G>T (p.Val1076Phe)
NM_001171.6(ABCC6):c.3235G>C (p.Val1079Leu)
NM_001171.6(ABCC6):c.3239T>C (p.Val1080Ala)
NM_001171.6(ABCC6):c.328G>A (p.Val110Met)
NM_001171.6(ABCC6):c.3301T>C (p.Phe1101Leu)
NM_001171.6(ABCC6):c.3306+5G>C rs369806278
NM_001171.6(ABCC6):c.3306+8G>A
NM_001171.6(ABCC6):c.3326C>T (p.Ser1109Leu) rs758648156
NM_001171.6(ABCC6):c.341C>T (p.Thr114Met)
NM_001171.6(ABCC6):c.341_345+8delinsG
NM_001171.6(ABCC6):c.345+12T>C rs759993107
NM_001171.6(ABCC6):c.34G>C (p.Gly12Arg)
NM_001171.6(ABCC6):c.3506+83A>C rs3213473
NM_001171.6(ABCC6):c.3510G>A (p.Trp1170Ter)
NM_001171.6(ABCC6):c.3530T>G (p.Leu1177Arg)
NM_001171.6(ABCC6):c.3563C>T (p.Thr1188Met)
NM_001171.6(ABCC6):c.3565T>C (p.Cys1189Arg)
NM_001171.6(ABCC6):c.3592A>G (p.Ser1198Gly)
NM_001171.6(ABCC6):c.3686G>A (p.Ser1229Asn) rs940876455
NM_001171.6(ABCC6):c.3698T>C (p.Val1233Ala)
NM_001171.6(ABCC6):c.372C>A (p.Thr124=)
NM_001171.6(ABCC6):c.3735+55del rs56822940
NM_001171.6(ABCC6):c.373G>A (p.Glu125Lys) rs879956688
NM_001171.6(ABCC6):c.3746G>A (p.Arg1249Lys)
NM_001171.6(ABCC6):c.3755C>T (p.Thr1252Ile) rs143212758
NM_001171.6(ABCC6):c.3773C>G (p.Pro1258Arg)
NM_001171.6(ABCC6):c.3774dup (p.Trp1259fs) rs72664220
NM_001171.6(ABCC6):c.3783G>C (p.Gln1261His)
NM_001171.6(ABCC6):c.3786C>T (p.Gly1262=)
NM_001171.6(ABCC6):c.3796G>A (p.Glu1266Lys)
NM_001171.6(ABCC6):c.3822C>A (p.Tyr1274Ter)
NM_001171.6(ABCC6):c.3844G>C (p.Val1282Leu)
NM_001171.6(ABCC6):c.3883-5G>A rs72664213
NM_001171.6(ABCC6):c.3903C>T (p.Thr1301=) rs201812902
NM_001171.6(ABCC6):c.3920C>T (p.Ser1307Phe)
NM_001171.6(ABCC6):c.392A>G (p.Gln131Arg)
NM_001171.6(ABCC6):c.3934C>T (p.Leu1312=)
NM_001171.6(ABCC6):c.3939G>T (p.Leu1313=)
NM_001171.6(ABCC6):c.3955G>T (p.Ala1319Ser)
NM_001171.6(ABCC6):c.3987dup (p.Ile1330fs) rs1567465730
NM_001171.6(ABCC6):c.3992C>T (p.Ala1331Val)
NM_001171.6(ABCC6):c.4041+3G>A
NM_001171.6(ABCC6):c.4081G>T (p.Asp1361Tyr)
NM_001171.6(ABCC6):c.4109C>T (p.Ala1370Val)
NM_001171.6(ABCC6):c.4165G>A (p.Gly1389Ser)
NM_001171.6(ABCC6):c.4191C>G (p.Asp1397Glu) rs1021172050
NM_001171.6(ABCC6):c.4197C>T (p.Gly1399=)
NM_001171.6(ABCC6):c.4208G>T (p.Ser1403Ile)
NM_001171.6(ABCC6):c.4209C>T (p.Ser1403=) rs63750700
NM_001171.6(ABCC6):c.4252C>A (p.Arg1418=)
NM_001171.6(ABCC6):c.4254del (p.Lys1419fs) rs1448934731
NM_001171.6(ABCC6):c.4282G>T (p.Ala1428Ser)
NM_001171.6(ABCC6):c.4304G>A (p.Gly1435Asp)
NM_001171.6(ABCC6):c.4330C>T (p.Leu1444Phe)
NM_001171.6(ABCC6):c.4340G>A (p.Trp1447Ter)
NM_001171.6(ABCC6):c.4370C>T (p.Ala1457Val)
NM_001171.6(ABCC6):c.4402C>T (p.Arg1468Trp)
NM_001171.6(ABCC6):c.4404-1G>A
NM_001171.6(ABCC6):c.4427A>G (p.Gln1476Arg)
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.4459C>G (p.Leu1487Val)
NM_001171.6(ABCC6):c.466T>A (p.Ser156Thr)
NM_001171.6(ABCC6):c.473C>T (p.Ala158Val) rs2606921
NM_001171.6(ABCC6):c.4G>A (p.Ala2Thr)
NM_001171.6(ABCC6):c.561G>A (p.Ala187=)
NM_001171.6(ABCC6):c.572C>G (p.Pro191Arg)
NM_001171.6(ABCC6):c.580C>T (p.Pro194Ser)
NM_001171.6(ABCC6):c.601-11_601-10insGGA
NM_001171.6(ABCC6):c.601-5T>A
NM_001171.6(ABCC6):c.640G>A (p.Ala214Thr)
NM_001171.6(ABCC6):c.675G>C (p.Arg225Ser)
NM_001171.6(ABCC6):c.67G>A (p.Ala23Thr)
NM_001171.6(ABCC6):c.706C>T (p.Leu236Phe)
NM_001171.6(ABCC6):c.719G>A (p.Gly240Glu)
NM_001171.6(ABCC6):c.732_734delinsAGA (p.Ser245Glu)
NM_001171.6(ABCC6):c.749C>G (p.Ser250Cys)
NM_001171.6(ABCC6):c.754C>T (p.Leu252Phe) rs72653757
NM_001171.6(ABCC6):c.765G>T (p.Glu255Asp)
NM_001171.6(ABCC6):c.788C>G (p.Ala263Gly)
NM_001171.6(ABCC6):c.791G>A (p.Arg264Gln)
NM_001171.6(ABCC6):c.792G>T (p.Arg264=)
NM_001171.6(ABCC6):c.795-11C>T
NM_001171.6(ABCC6):c.818A>G (p.Lys273Arg)
NM_001171.6(ABCC6):c.840G>C (p.Met280Ile)
NM_001171.6(ABCC6):c.844G>C (p.Ala282Pro)
NM_001171.6(ABCC6):c.856G>C (p.Glu286Gln)
NM_001171.6(ABCC6):c.868del (p.Arg290fs)
NM_001171.6(ABCC6):c.869G>A (p.Arg290Gln)
NM_001171.6(ABCC6):c.889C>T (p.Arg297Cys)
NM_001171.6(ABCC6):c.939G>C (p.Leu313=)
NM_001171.6(ABCC6):c.940G>C (p.Gly314Arg)
NM_001171.6(ABCC6):c.960del (p.Ser321fs) rs72664226
NM_001171.6(ABCC6):c.998+2_998+3del rs72664204
NM_001171.6(ABCC6):c.998+5G>A
NM_001171.6(ABCC6):c.998G>C (p.Ser333Thr)
NM_001171.6(ABCC6):c.99A>T (p.Arg33Ser)

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.