ClinVar Miner

List of variants reported as uncertain significance for Alport syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 318
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000092.5(COL4A4):c.2996G>A (p.Gly999Glu) rs13027659 0.01279
NM_000091.5(COL4A3):c.*969G>A rs188150740 0.00620
NM_000092.5(COL4A4):c.*4194C>T rs540904446 0.00467
NM_000092.5(COL4A4):c.*859A>C rs187539474 0.00416
NM_000091.5(COL4A3):c.3325C>T (p.Pro1109Ser) rs55816283 0.00412
NM_000091.5(COL4A3):c.3258G>A (p.Gly1086=) rs147085074 0.00385
NM_000091.5(COL4A3):c.4893C>T (p.Phe1631=) rs183218622 0.00344
NM_000091.5(COL4A3):c.2475G>C (p.Leu825Phe) rs192027050 0.00262
NM_000092.5(COL4A4):c.*2962A>G rs181652003 0.00253
NM_000092.5(COL4A4):c.*857G>A rs80142712 0.00247
NM_000092.5(COL4A4):c.4152G>A (p.Ala1384=) rs75398993 0.00245
NM_000092.5(COL4A4):c.*1346T>C rs55869005 0.00228
NM_000092.5(COL4A4):c.4217-15T>C rs200926310 0.00228
NM_000091.5(COL4A3):c.-13G>C rs770803750 0.00217
NM_000092.5(COL4A4):c.4090+14T>C rs147376687 0.00207
NM_000091.5(COL4A3):c.*647T>G rs183552783 0.00206
NM_000092.5(COL4A4):c.*3269A>G rs185029960 0.00188
NM_000091.5(COL4A3):c.3566-9T>C rs147886850 0.00184
NM_000092.5(COL4A4):c.*705T>C rs150289717 0.00176
NM_000092.5(COL4A4):c.*2647C>T rs139204655 0.00161
NM_000091.5(COL4A3):c.*1322T>A rs115338903 0.00158
NM_000091.5(COL4A3):c.4756-13A>T rs190701197 0.00135
NM_000091.5(COL4A3):c.112C>G (p.Gln38Glu) rs201607115 0.00132
NM_000091.5(COL4A3):c.3939G>A (p.Gly1313=) rs141552752 0.00121
NM_000092.5(COL4A4):c.*4004_*4005del rs532937469 0.00119
NM_000092.4(COL4A4):c.-555G>A rs79908084 0.00118
NM_000091.5(COL4A3):c.1483C>T (p.His495Tyr) rs200510532 0.00110
NM_000092.5(COL4A4):c.*4173A>T rs529259159 0.00086
NM_000091.5(COL4A3):c.573T>C (p.Pro191=) rs375503109 0.00078
NM_000092.5(COL4A4):c.2399C>G (p.Pro800Arg) rs200714000 0.00076
NM_000092.5(COL4A4):c.736-10T>G rs201175819 0.00073
NM_000091.5(COL4A3):c.*1764A>G rs577379452 0.00071
NM_000092.5(COL4A4):c.*3410_*3411del rs528949461 0.00068
NM_000092.5(COL4A4):c.*3639T>C rs193239835 0.00063
NM_000091.5(COL4A3):c.2489-8G>A rs201846272 0.00061
NM_000091.5(COL4A3):c.4494C>G (p.Thr1498=) rs200454769 0.00058
NM_000092.5(COL4A4):c.3989C>T (p.Pro1330Leu) rs201578201 0.00054
NM_000092.5(COL4A4):c.*4545A>G rs569924185 0.00052
NM_000092.5(COL4A4):c.3654A>G (p.Pro1218=) rs369708146 0.00050
NM_000091.5(COL4A3):c.1516G>A (p.Ala506Thr) rs188967260 0.00048
NM_000091.5(COL4A3):c.829-15C>T rs201021733 0.00046
NM_000092.5(COL4A4):c.*3467C>G rs752632630 0.00046
NM_000092.5(COL4A4):c.1353C>T (p.Gly451=) rs199511948 0.00044
NM_000092.5(COL4A4):c.*1064G>C rs560936685 0.00043
NM_000092.5(COL4A4):c.1205-9A>G rs370706928 0.00043
NM_000091.5(COL4A3):c.-10C>T rs781380101 0.00039
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532 0.00039
NM_000092.5(COL4A4):c.*3712T>G rs535103151 0.00038
NM_000092.5(COL4A4):c.4349T>C (p.Ile1450Thr) rs72969704 0.00038
NM_000091.5(COL4A3):c.1505-12G>A rs114658110 0.00036
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser) rs190598500 0.00035
NM_000092.5(COL4A4):c.-134C>G rs530247030 0.00033
NM_000091.5(COL4A3):c.3270A>C (p.Pro1090=) rs201989155 0.00032
NM_000092.5(COL4A4):c.*1464A>T rs573508041 0.00032
NM_000092.5(COL4A4):c.3108T>C (p.Gly1036=) rs201962241 0.00030
NM_000092.5(COL4A4):c.541G>T (p.Ala181Ser) rs200707549 0.00030
NM_000092.5(COL4A4):c.*3397T>C rs531406341 0.00027
NM_000092.5(COL4A4):c.*3876G>A rs184473858 0.00026
NM_000092.5(COL4A4):c.1435G>C (p.Gly479Arg) rs202210475 0.00026
NM_000091.5(COL4A3):c.3182G>A (p.Gly1061Asp) rs202078295 0.00025
NM_000091.5(COL4A3):c.221C>T (p.Pro74Leu) rs373975901 0.00024
NM_000091.5(COL4A3):c.4510T>C (p.Phe1504Leu) rs201671013 0.00024
NM_000092.5(COL4A4):c.*2069T>C rs886055710 0.00023
NM_000092.5(COL4A4):c.*569C>A rs772402371 0.00023
NM_000091.5(COL4A3):c.4523A>G (p.Asn1508Ser) rs200512461 0.00022
NM_000091.5(COL4A3):c.3945A>G (p.Pro1315=) rs189574905 0.00021
NM_000092.5(COL4A4):c.2144C>T (p.Ala715Val) rs76636743 0.00021
NM_000092.5(COL4A4):c.865C>T (p.Arg289Cys) rs371904688 0.00021
NM_000092.5(COL4A4):c.*3948C>T rs886055703 0.00020
NM_000092.5(COL4A4):c.193-9C>G rs190570269 0.00020
NM_000091.5(COL4A3):c.-26G>T rs747049729 0.00019
NM_000092.5(COL4A4):c.*4534T>C rs767613572 0.00019
NM_000092.5(COL4A4):c.4715C>T (p.Pro1572Leu) rs121912863 0.00019
NM_000092.5(COL4A4):c.4924C>T (p.His1642Tyr) rs200450557 0.00016
NM_000092.5(COL4A4):c.2430C>G (p.Gly810=) rs769363556 0.00015
NM_000091.5(COL4A3):c.*406G>A rs759265728 0.00014
NM_000091.5(COL4A3):c.3751+7G>A rs750554079 0.00014
NM_000092.5(COL4A4):c.*1171C>T rs545148830 0.00014
NM_000092.5(COL4A4):c.*3159C>A rs559222889 0.00014
NM_000092.5(COL4A4):c.*883C>G rs952959654 0.00014
NM_000092.5(COL4A4):c.4982T>A (p.Phe1661Tyr) rs374119389 0.00014
NM_000091.5(COL4A3):c.688-8G>T rs748843785 0.00013
NM_000091.5(COL4A3):c.3419-8T>G rs754483986 0.00011
NM_000091.5(COL4A3):c.3644G>A (p.Arg1215Gln) rs200443942 0.00011
NM_000091.5(COL4A3):c.3882+10G>A rs78980950 0.00011
NM_000091.5(COL4A3):c.2887G>A (p.Ala963Thr) rs200801946 0.00010
NM_000092.5(COL4A4):c.*2422T>C rs892108516 0.00010
NM_000092.5(COL4A4):c.*2945T>C rs886055707 0.00010
NM_000091.5(COL4A3):c.3196C>T (p.Pro1066Ser) rs377003650 0.00009
NM_000092.4(COL4A4):c.-641G>A rs1003987615 0.00009
NM_000092.5(COL4A4):c.15C>T (p.His5=) rs199504524 0.00009
NM_000092.5(COL4A4):c.1664C>T (p.Ala555Val) rs371066387 0.00009
NM_000092.5(COL4A4):c.2860+13C>T rs374807397 0.00008
NM_000092.5(COL4A4):c.4678C>T (p.Arg1560Cys) rs200973262 0.00008
NM_000091.5(COL4A3):c.*1639G>A rs950432432 0.00007
NM_000091.5(COL4A3):c.1802C>T (p.Pro601Leu) rs369567469 0.00007
NM_000091.5(COL4A3):c.3476G>A (p.Arg1159His) rs145948549 0.00007
NM_000092.5(COL4A4):c.*4347C>T rs190602131 0.00007
NM_000092.5(COL4A4):c.2985C>T (p.Pro995=) rs79261248 0.00007
NM_000091.5(COL4A3):c.*1000C>T rs770149608 0.00006
NM_000091.5(COL4A3):c.*1645del rs886055747 0.00006
NM_000091.5(COL4A3):c.*2180C>T rs886055749 0.00006
NM_000091.5(COL4A3):c.1256C>A (p.Ser419Tyr) rs201031986 0.00006
NM_000091.5(COL4A3):c.1576-6C>T rs202210023 0.00006
NM_000091.5(COL4A3):c.1912C>T (p.Pro638Ser) rs767174856 0.00006
NM_000091.5(COL4A3):c.3228G>A (p.Pro1076=) rs200125890 0.00006
NM_000091.5(COL4A3):c.4253-14T>C rs747386514 0.00006
NM_000091.5(COL4A3):c.513C>T (p.Gly171=) rs199514043 0.00006
NM_000092.5(COL4A4):c.*1112G>A rs886055717 0.00006
NM_000092.5(COL4A4):c.*1802T>A rs886055713 0.00006
NM_000092.5(COL4A4):c.2079C>T (p.Pro693=) rs200010601 0.00006
NM_000092.5(COL4A4):c.4291C>T (p.Arg1431Cys) rs536570392 0.00006
NM_000092.5(COL4A4):c.4945A>G (p.Ser1649Gly) rs192411379 0.00006
NM_000092.5(COL4A4):c.778G>A (p.Val260Ile) rs775358063 0.00006
NM_000091.5(COL4A3):c.1637C>T (p.Pro546Leu) rs772037798 0.00005
NM_000091.5(COL4A3):c.1928-4T>C rs376327706 0.00005
NM_000091.5(COL4A3):c.4482G>A (p.Leu1494=) rs181952966 0.00005
NM_000092.4(COL4A4):c.-341G>A rs886055731 0.00005
NM_000092.5(COL4A4):c.*3938A>G rs192161029 0.00005
NM_000092.5(COL4A4):c.1630C>T (p.His544Tyr) rs745815071 0.00005
NM_000092.5(COL4A4):c.4216+11C>T rs117468095 0.00005
NM_000092.5(COL4A4):c.4421C>T (p.Thr1474Met) rs201615111 0.00005
NM_000092.5(COL4A4):c.928C>T (p.Arg310Trp) rs200817090 0.00005
NM_000091.4(COL4A3):c.-134T>C rs886055734 0.00004
NM_000091.5(COL4A3):c.*1612A>G rs760687020 0.00004
NM_000091.5(COL4A3):c.*2565T>C rs1261742464 0.00004
NM_000091.5(COL4A3):c.*261A>T rs1019244359 0.00004
NM_000091.5(COL4A3):c.2125+13T>C rs777353565 0.00004
NM_000091.5(COL4A3):c.2282G>A (p.Arg761Lys) rs747356302 0.00004
NM_000091.5(COL4A3):c.3032G>A (p.Arg1011His) rs772164474 0.00004
NM_000091.5(COL4A3):c.4677C>T (p.Ala1559=) rs764663555 0.00004
NM_000091.5(COL4A3):c.516C>T (p.Asp172=) rs759455097 0.00004
NM_000091.5(COL4A3):c.717A>G (p.Gly239=) rs377503376 0.00004
NM_000091.5(COL4A3):c.870T>C (p.Pro290=) rs373130348 0.00004
NM_000092.5(COL4A4):c.*1073del rs149522920 0.00004
NM_000092.5(COL4A4):c.*128G>A rs886055722 0.00004
NM_000092.5(COL4A4):c.*1423T>C rs886055714 0.00004
NM_000092.5(COL4A4):c.*1960C>A rs1035280131 0.00004
NM_000092.5(COL4A4):c.*2033G>A rs886055711 0.00004
NM_000092.5(COL4A4):c.*888G>A rs372146953 0.00004
NM_000092.5(COL4A4):c.*931C>T rs903690028 0.00004
NM_000092.5(COL4A4):c.2516C>T (p.Pro839Leu) rs199562472 0.00004
NM_000092.5(COL4A4):c.4247G>A (p.Arg1416Lys) rs370734150 0.00004
NM_000092.5(COL4A4):c.4962G>A (p.Thr1654=) rs375911030 0.00004
NM_000091.5(COL4A3):c.*287G>A rs573135458 0.00003
NM_000091.5(COL4A3):c.*660T>C rs557009121 0.00003
NM_000091.5(COL4A3):c.4059T>C (p.Ile1353=) rs374672854 0.00003
NM_000091.5(COL4A3):c.4678G>A (p.Val1560Ile) rs574102153 0.00003
NM_000091.5(COL4A3):c.4700T>G (p.Ile1567Ser) rs371452712 0.00003
NM_000092.5(COL4A4):c.*1026G>A rs927436000 0.00003
NM_000092.5(COL4A4):c.*1242C>T rs886055716 0.00003
NM_000092.5(COL4A4):c.*2677T>G rs892742003 0.00003
NM_000092.5(COL4A4):c.*3299A>G rs886055706 0.00003
NM_000092.5(COL4A4):c.*4393G>T rs886055699 0.00003
NM_000092.5(COL4A4):c.2586T>C (p.Pro862=) rs761238651 0.00003
NM_000092.5(COL4A4):c.3150+14G>T rs201486440 0.00003
NM_000092.5(COL4A4):c.4708G>A (p.Glu1570Lys) rs757328549 0.00003
NM_000091.5(COL4A3):c.-16T>C rs886055736 0.00002
NM_000091.5(COL4A3):c.1295C>T (p.Pro432Leu) rs534253913 0.00002
NM_000091.5(COL4A3):c.2919C>T (p.Gly973=) rs758181560 0.00002
NM_000091.5(COL4A3):c.468+9T>C rs754471166 0.00002
NM_000092.5(COL4A4):c.1893A>G (p.Gly631=) rs370886041 0.00002
NM_000092.5(COL4A4):c.3622C>G (p.Leu1208Val) rs780290586 0.00002
NM_000092.5(COL4A4):c.4725G>A (p.Ala1575=) rs886055724 0.00002
NM_000092.5(COL4A4):c.4862G>A (p.Ser1621Asn) rs886055723 0.00002
NM_000091.5(COL4A3):c.*1238T>C rs1423033002 0.00001
NM_000091.5(COL4A3):c.*1340T>C rs929078167 0.00001
NM_000091.5(COL4A3):c.*1634G>C rs376587950 0.00001
NM_000091.5(COL4A3):c.*2308T>C rs886055751 0.00001
NM_000091.5(COL4A3):c.*2795T>C rs906294246 0.00001
NM_000091.5(COL4A3):c.*387A>C rs971677230 0.00001
NM_000091.5(COL4A3):c.*501T>C rs1210086779 0.00001
NM_000091.5(COL4A3):c.1367_1369del (p.Tyr456del) rs762420854 0.00001
NM_000091.5(COL4A3):c.1423C>G (p.Leu475Val) rs886055738 0.00001
NM_000091.5(COL4A3):c.1927G>A (p.Gly643Ser) rs778034451 0.00001
NM_000091.5(COL4A3):c.2656+12T>A rs748254625 0.00001
NM_000091.5(COL4A3):c.2827G>A (p.Gly943Arg) rs1265432530 0.00001
NM_000091.5(COL4A3):c.388-15T>C rs762513527 0.00001
NM_000091.5(COL4A3):c.4100G>C (p.Gly1367Ala) rs886055742 0.00001
NM_000091.5(COL4A3):c.4153+10T>C rs865866667 0.00001
NM_000091.5(COL4A3):c.828+9T>C rs2069991819 0.00001
NM_000092.4(COL4A4):c.-408G>A rs554839865 0.00001
NM_000092.5(COL4A4):c.*1173T>C rs1360525515 0.00001
NM_000092.5(COL4A4):c.*1930T>C rs1289208914 0.00001
NM_000092.5(COL4A4):c.*222C>G rs1305583691 0.00001
NM_000092.5(COL4A4):c.*22C>A rs562265530 0.00001
NM_000092.5(COL4A4):c.*4363G>C rs1233339249 0.00001
NM_000092.5(COL4A4):c.*4369C>T rs886055700 0.00001
NM_000092.5(COL4A4):c.*4498T>C rs1481974918 0.00001
NM_000092.5(COL4A4):c.*4583A>G rs886055698 0.00001
NM_000092.5(COL4A4):c.*4599T>C rs1280441510 0.00001
NM_000092.5(COL4A4):c.*833C>T rs886055720 0.00001
NM_000092.5(COL4A4):c.1369+15A>C rs1216718864 0.00001
NM_000092.5(COL4A4):c.1963C>T (p.Pro655Ser) rs886055726 0.00001
NM_000092.5(COL4A4):c.1988-3C>T rs752688851 0.00001
NM_000092.5(COL4A4):c.2007C>T (p.Asn669=) rs754769010 0.00001
NM_000092.5(COL4A4):c.2045A>G (p.Asp682Gly) rs142093416 0.00001
NM_000092.5(COL4A4):c.228T>G (p.Ile76Met) rs1393470640 0.00001
NM_000092.5(COL4A4):c.2378C>T (p.Ala793Val) rs377676207 0.00001
NM_000092.5(COL4A4):c.2392G>A (p.Gly798Ser) rs760803228 0.00001
NM_000092.5(COL4A4):c.3513C>T (p.Ser1171=) rs762812157 0.00001
NM_000092.5(COL4A4):c.3577+14C>T rs370328730 0.00001
NM_000092.5(COL4A4):c.3706+13A>G rs754923656 0.00001
NM_000092.5(COL4A4):c.4081+9C>G rs201688381 0.00001
NM_000092.5(COL4A4):c.4766C>T (p.Pro1589Leu) rs768974023 0.00001
NM_000092.5(COL4A4):c.4779G>A (p.Arg1593=) rs751561029 0.00001
NM_000092.5(COL4A4):c.4947C>T (p.Ser1649=) rs918428666 0.00001
NM_000092.5(COL4A4):c.507G>C (p.Lys169Asn) rs545808060 0.00001
NM_000092.5(COL4A4):c.620C>T (p.Ala207Val) rs369698515 0.00001
NM_000092.5(COL4A4):c.661C>T (p.Pro221Ser) rs1261138757 0.00001
NM_000092.5(COL4A4):c.88C>T (p.Leu30Phe) rs758174051 0.00001
NM_000091.4(COL4A3):c.-146G>C rs886055733
NM_000091.5(COL4A3):c.*1032G>A rs886055744
NM_000091.5(COL4A3):c.*1069_*1070del rs11297279
NM_000091.5(COL4A3):c.*1069_*1070dup rs11297279
NM_000091.5(COL4A3):c.*1070del rs11297279
NM_000091.5(COL4A3):c.*1070dup rs11297279
NM_000091.5(COL4A3):c.*1071G>A rs866036167
NM_000091.5(COL4A3):c.*1739C>T rs750139996
NM_000091.5(COL4A3):c.*1918T>C rs767668198
NM_000091.5(COL4A3):c.*2048C>G rs886055748
NM_000091.5(COL4A3):c.*2087A>T rs2073823186
NM_000091.5(COL4A3):c.*2266A>G rs2073829100
NM_000091.5(COL4A3):c.*2272T>C rs886055750
NM_000091.5(COL4A3):c.*2836A>G rs1030825188
NM_000091.5(COL4A3):c.*2853A>C rs768580153
NM_000091.5(COL4A3):c.*454G>T rs2073771672
NM_000091.5(COL4A3):c.*459T>C rs1041353391
NM_000091.5(COL4A3):c.*656T>A rs538761832
NM_000091.5(COL4A3):c.-81G>C rs886055735
NM_000091.5(COL4A3):c.1031C>T (p.Thr344Ile) rs2070429834
NM_000091.5(COL4A3):c.1150+4T>A rs200061201
NM_000091.5(COL4A3):c.1238C>A (p.Ala413Asp) rs2070738434
NM_000091.5(COL4A3):c.1508G>A (p.Arg503Lys) rs1434266764
NM_000091.5(COL4A3):c.1849G>A (p.Gly617Ser) rs2071335952
NM_000091.5(COL4A3):c.1863A>G (p.Gln621=) rs771390525
NM_000091.5(COL4A3):c.2021-9G>C rs773021303
NM_000091.5(COL4A3):c.2747-11C>A rs886055739
NM_000091.5(COL4A3):c.2881+6G>T rs886055740
NM_000091.5(COL4A3):c.3211-13G>A rs200555661
NM_000091.5(COL4A3):c.3518-15G>C rs2072979600
NM_000091.5(COL4A3):c.36C>T (p.Leu12=) rs1189095338
NM_000091.5(COL4A3):c.3825C>T (p.His1275=) rs143380907
NM_000091.5(COL4A3):c.386A>C (p.Lys129Thr) rs886055737
NM_000091.5(COL4A3):c.3956-8_3956-5del rs779522146
NM_000091.5(COL4A3):c.3995C>G (p.Pro1332Arg) rs757747350
NM_000091.5(COL4A3):c.4027+11G>T rs191002419
NM_000091.5(COL4A3):c.4501C>A (p.Pro1501Thr) rs1195144676
NM_000091.5(COL4A3):c.4691C>T (p.Thr1564Ile) rs886055743
NM_000091.5(COL4A3):c.4712C>T (p.Pro1571Leu) rs2073645172
NM_000091.5(COL4A3):c.4825C>A (p.Arg1609=) rs756231749
NM_000091.5(COL4A3):c.610-11G>A rs566045388
NM_000091.5(COL4A3):c.686G>T (p.Arg229Leu) rs188942711
NM_000091.5(COL4A3):c.865G>A (p.Ala289Thr) rs2070037501
NM_000091.5(COL4A3):c.87+7G>T rs1358691399
NM_000091.5(COL4A3):c.922C>T (p.Pro308Ser) rs765318949
NM_000092.4(COL4A4):c.-301C>T rs2065101251
NM_000092.4(COL4A4):c.-527G>A rs886055732
NM_000092.5(COL4A4):c.*1190G>A rs924155482
NM_000092.5(COL4A4):c.*1292A>T rs1962017400
NM_000092.5(COL4A4):c.*1349A>C rs886055715
NM_000092.5(COL4A4):c.*1397A>G rs1961988842
NM_000092.5(COL4A4):c.*1687T>G rs538453112
NM_000092.5(COL4A4):c.*1914A>T rs886055712
NM_000092.5(COL4A4):c.*2021A>G rs1961867304
NM_000092.5(COL4A4):c.*2119_*2120dup rs56983325
NM_000092.5(COL4A4):c.*2120dup rs56983325
NM_000092.5(COL4A4):c.*2259G>A rs886055708
NM_000092.5(COL4A4):c.*2259G>C rs886055708
NM_000092.5(COL4A4):c.*244C>A rs56196639
NM_000092.5(COL4A4):c.*2487C>A rs538994353
NM_000092.5(COL4A4):c.*2732C>T rs1043998157
NM_000092.5(COL4A4):c.*2807T>G rs1961667960
NM_000092.5(COL4A4):c.*2849G>A rs531063842
NM_000092.5(COL4A4):c.*2855C>T rs141795776
NM_000092.5(COL4A4):c.*3156A>G rs748537109
NM_000092.5(COL4A4):c.*318T>G rs1575685645
NM_000092.5(COL4A4):c.*321A>G rs886055721
NM_000092.5(COL4A4):c.*3354C>A rs1961538066
NM_000092.5(COL4A4):c.*345T>A rs1962275393
NM_000092.5(COL4A4):c.*3461A>G rs886055705
NM_000092.5(COL4A4):c.*3791A>C rs1961459136
NM_000092.5(COL4A4):c.*3940T>C rs886055704
NM_000092.5(COL4A4):c.*4041A>G rs1016355173
NM_000092.5(COL4A4):c.*4102dup rs370056635
NM_000092.5(COL4A4):c.*4106C>A rs886055702
NM_000092.5(COL4A4):c.*4135A>T rs886055701
NM_000092.5(COL4A4):c.*4385A>G rs574071910
NM_000092.5(COL4A4):c.*48G>A rs767600758
NM_000092.5(COL4A4):c.*491A>G rs149466995
NM_000092.5(COL4A4):c.*747T>C rs752977716
NM_000092.5(COL4A4):c.*755T>C rs191394048
NM_000092.5(COL4A4):c.*863C>G rs886055719
NM_000092.5(COL4A4):c.*864C>G rs886055718
NM_000092.5(COL4A4):c.*888G>T rs372146953
NM_000092.5(COL4A4):c.-102+10C>G rs867845285
NM_000092.5(COL4A4):c.-102+8G>T rs544582281
NM_000092.5(COL4A4):c.-177G>A rs886055730
NM_000092.5(COL4A4):c.1522C>T (p.Pro508Ser) rs2059736984
NM_000092.5(COL4A4):c.1719T>C (p.Pro573=) rs533957132
NM_000092.5(COL4A4):c.1767T>A (p.Asp589Glu) rs886055727
NM_000092.5(COL4A4):c.1914A>G (p.Pro638=) rs759226801
NM_000092.5(COL4A4):c.2159C>T (p.Pro720Leu) rs749186337
NM_000092.5(COL4A4):c.2335C>G (p.Pro779Ala) rs886055725
NM_000092.5(COL4A4):c.3374C>T (p.Ser1125Phe) rs766044583
NM_000092.5(COL4A4):c.354A>G (p.Pro118=) rs1432438341
NM_000092.5(COL4A4):c.3770C>T (p.Pro1257Leu) rs755884665
NM_000092.5(COL4A4):c.3974-14T>C rs1427442513
NM_000092.5(COL4A4):c.436G>A (p.Gly146Ser) rs886055729
NM_000092.5(COL4A4):c.4594C>A (p.His1532Asn) rs1962633158
NM_000092.5(COL4A4):c.4760C>G (p.Pro1587Arg) rs190148408
NM_000092.5(COL4A4):c.645G>A (p.Glu215=) rs2061038127
NM_000092.5(COL4A4):c.680G>A (p.Arg227His) rs368248078
NM_000092.5(COL4A4):c.816+12A>T rs886055728
NM_000092.5(COL4A4):c.817-6T>G rs2060623868
NM_000092.5(COL4A4):c.843T>C (p.Val281=) rs1335068296
NM_000092.5(COL4A4):c.931-18dup rs746509796
NM_033380.3(COL4A5):c.830C>T (p.Pro277Leu) rs754849522

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.