ClinVar Miner

List of variants in gene COL4A4 reported as uncertain significance for Alport syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 253
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HGVS dbSNP gnomAD frequency
NM_000092.5(COL4A4):c.2996G>A (p.Gly999Glu) rs13027659 0.01279
NM_000092.5(COL4A4):c.*4194C>T rs540904446 0.00467
NM_000092.5(COL4A4):c.*859A>C rs187539474 0.00416
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_000092.5(COL4A4):c.4090+14T>C rs147376687 0.00207
NM_000092.5(COL4A4):c.*3269A>G rs185029960 0.00188
NM_000092.5(COL4A4):c.*705T>C rs150289717 0.00176
NM_000092.5(COL4A4):c.*2647C>T rs139204655 0.00161
NM_000092.5(COL4A4):c.*4004_*4005del rs532937469 0.00119
NM_000092.4(COL4A4):c.-555G>A rs79908084 0.00118
NM_000092.5(COL4A4):c.1819G>A (p.Ala607Thr) rs75539253 0.00109
NM_000092.5(COL4A4):c.*4173A>T rs529259159 0.00086
NM_000092.5(COL4A4):c.71+10C>T rs374140251 0.00077
NM_000092.5(COL4A4):c.2399C>G (p.Pro800Arg) rs200714000 0.00076
NM_000092.5(COL4A4):c.736-10T>G rs201175819 0.00073
NM_000092.5(COL4A4):c.*3410_*3411del rs528949461 0.00068
NM_000092.5(COL4A4):c.*3639T>C rs193239835 0.00063
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_000092.5(COL4A4):c.2241C>T (p.Pro747=) rs374510402 0.00048
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_000092.5(COL4A4):c.2383+7G>A rs182406906 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_000092.5(COL4A4):c.-134C>G rs530247030 0.00033
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_000092.5(COL4A4):c.*2069T>C rs886055710 0.00023
NM_000092.5(COL4A4):c.*569C>A rs772402371 0.00023
NM_000092.5(COL4A4):c.2144C>T (p.Ala715Val) rs76636743 0.00021
NM_000092.5(COL4A4):c.*3948C>T rs886055703 0.00020
NM_000092.5(COL4A4):c.193-9C>G rs190570269 0.00020
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.1055C>T (p.Pro352Leu) rs371717486 0.00016
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_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_000092.5(COL4A4):c.2161C>T (p.Pro721Ser) rs200759521 0.00012
NM_000092.5(COL4A4):c.338G>A (p.Gly113Asp) rs766085522 0.00011
NM_000092.5(COL4A4):c.771C>T (p.Thr257=) rs372387985 0.00011
NM_000092.5(COL4A4):c.*2422T>C rs892108516 0.00010
NM_000092.5(COL4A4):c.*2945T>C rs886055707 0.00010
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.3995C>T (p.Pro1332Leu) rs200860702 0.00009
NM_000092.5(COL4A4):c.2860+13C>T rs374807397 0.00008
NM_000092.5(COL4A4):c.3037C>T (p.His1013Tyr) rs751663801 0.00008
NM_000092.5(COL4A4):c.4678C>T (p.Arg1560Cys) rs200973262 0.00008
NM_000092.5(COL4A4):c.*4347C>T rs190602131 0.00007
NM_000092.5(COL4A4):c.2985C>T (p.Pro995=) rs79261248 0.00007
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.1129C>T (p.Arg377Cys) rs555143841 0.00006
NM_000092.5(COL4A4):c.1394C>T (p.Pro465Leu) rs200411532 0.00006
NM_000092.5(COL4A4):c.2079C>T (p.Pro693=) rs200010601 0.00006
NM_000092.5(COL4A4):c.2170C>T (p.Arg724Cys) rs754398956 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_000092.5(COL4A4):c.8C>T (p.Ser3Phe) rs201403066 0.00006
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.1334G>C (p.Gly445Ala) rs548019779 0.00005
NM_000092.5(COL4A4):c.1630C>T (p.His544Tyr) rs745815071 0.00005
NM_000092.5(COL4A4):c.2570C>T (p.Pro857Leu) rs533602128 0.00005
NM_000092.5(COL4A4):c.2929C>G (p.Pro977Ala) rs769300622 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_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.1668G>T (p.Lys556Asn) rs764279454 0.00004
NM_000092.5(COL4A4):c.1782A>G (p.Glu594=) rs370489388 0.00004
NM_000092.5(COL4A4):c.2516C>T (p.Pro839Leu) rs199562472 0.00004
NM_000092.5(COL4A4):c.2717-3C>T rs191634780 0.00004
NM_000092.5(COL4A4):c.2986G>A (p.Gly996Arg) rs370474706 0.00004
NM_000092.5(COL4A4):c.3644C>T (p.Pro1215Leu) rs189847470 0.00004
NM_000092.5(COL4A4):c.4247G>A (p.Arg1416Lys) rs370734150 0.00004
NM_000092.5(COL4A4):c.4394G>A (p.Gly1465Asp) rs533297350 0.00004
NM_000092.5(COL4A4):c.4640C>T (p.Ala1547Val) rs780916516 0.00004
NM_000092.5(COL4A4):c.4782C>T (p.Ser1594=) rs200799557 0.00004
NM_000092.5(COL4A4):c.4962G>A (p.Thr1654=) rs375911030 0.00004
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.1471C>T (p.Leu491Phe) rs777805216 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.4198A>G (p.Arg1400Gly) rs749483911 0.00003
NM_000092.5(COL4A4):c.4693C>T (p.Arg1565Cys) rs372161135 0.00003
NM_000092.5(COL4A4):c.4708G>A (p.Glu1570Lys) rs757328549 0.00003
NM_000092.5(COL4A4):c.1893A>G (p.Gly631=) rs370886041 0.00002
NM_000092.5(COL4A4):c.1990G>A (p.Asp664Asn) rs201181725 0.00002
NM_000092.5(COL4A4):c.3112A>G (p.Arg1038Gly) rs770930167 0.00002
NM_000092.5(COL4A4):c.3355A>G (p.Arg1119Gly) rs778458961 0.00002
NM_000092.5(COL4A4):c.3622C>G (p.Leu1208Val) rs780290586 0.00002
NM_000092.5(COL4A4):c.4694G>A (p.Arg1565His) rs200109045 0.00002
NM_000092.5(COL4A4):c.4725G>A (p.Ala1575=) rs886055724 0.00002
NM_000092.5(COL4A4):c.4809+9C>T rs765888822 0.00002
NM_000092.5(COL4A4):c.4862G>A (p.Ser1621Asn) rs886055723 0.00002
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.1203A>G (p.Ala401=) rs778832152 0.00001
NM_000092.5(COL4A4):c.1369+15A>C rs1216718864 0.00001
NM_000092.5(COL4A4):c.1395C>T (p.Pro465=) rs771419084 0.00001
NM_000092.5(COL4A4):c.1585C>T (p.Pro529Ser) rs2059732638 0.00001
NM_000092.5(COL4A4):c.192G>A (p.Arg64=) rs748152418 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.2092G>A (p.Gly698Arg) rs1241404192 0.00001
NM_000092.5(COL4A4):c.2123G>T (p.Arg708Ile) rs759828394 0.00001
NM_000092.5(COL4A4):c.228T>G (p.Ile76Met) rs1393470640 0.00001
NM_000092.5(COL4A4):c.2294G>T (p.Gly765Val) rs747881404 0.00001
NM_000092.5(COL4A4):c.2378C>T (p.Ala793Val) rs377676207 0.00001
NM_000092.5(COL4A4):c.2383+3A>G rs1351961379 0.00001
NM_000092.5(COL4A4):c.2392G>A (p.Gly798Ser) rs760803228 0.00001
NM_000092.5(COL4A4):c.2617G>A (p.Gly873Arg) rs929684384 0.00001
NM_000092.5(COL4A4):c.3014G>A (p.Gly1005Glu) rs769138971 0.00001
NM_000092.5(COL4A4):c.3434G>A (p.Gly1145Glu) rs1260916310 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.3771G>A (p.Pro1257=) rs1384523881 0.00001
NM_000092.5(COL4A4):c.4081+9C>G rs201688381 0.00001
NM_000092.5(COL4A4):c.4091G>T (p.Gly1364Val) rs770364064 0.00001
NM_000092.5(COL4A4):c.410G>A (p.Gly137Asp) rs377511303 0.00001
NM_000092.5(COL4A4):c.4413C>G (p.His1471Gln) rs1478610555 0.00001
NM_000092.5(COL4A4):c.4779G>A (p.Arg1593=) rs751561029 0.00001
NM_000092.5(COL4A4):c.4829A>G (p.Gln1610Arg) rs369714481 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.595-7T>A rs765195717 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.734C>T (p.Pro245Leu) rs770011392 0.00001
NM_000092.5(COL4A4):c.871-6T>C rs749753913 0.00001
NM_000092.5(COL4A4):c.88C>T (p.Leu30Phe) rs758174051 0.00001
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.1464T>G (p.Asn488Lys) rs2059739807
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.192+1G>A
NM_000092.5(COL4A4):c.2057G>A (p.Gly686Asp) rs1156323870
NM_000092.5(COL4A4):c.2159C>T (p.Pro720Leu) rs749186337
NM_000092.5(COL4A4):c.2164+8A>T rs745682054
NM_000092.5(COL4A4):c.232C>T (p.Pro78Ser) rs762682812
NM_000092.5(COL4A4):c.2335C>G (p.Pro779Ala) rs886055725
NM_000092.5(COL4A4):c.2611C>T (p.Leu871Phe) rs910142548
NM_000092.5(COL4A4):c.3196G>C (p.Gly1066Arg) rs1333536476
NM_000092.5(COL4A4):c.3374C>T (p.Ser1125Phe) rs766044583
NM_000092.5(COL4A4):c.3488G>T (p.Gly1163Val) rs1559480099
NM_000092.5(COL4A4):c.354A>G (p.Pro118=) rs1432438341
NM_000092.5(COL4A4):c.3696A>G (p.Pro1232=) rs1968564790
NM_000092.5(COL4A4):c.3770C>T (p.Pro1257Leu) rs755884665
NM_000092.5(COL4A4):c.3974-14T>C rs1427442513
NM_000092.5(COL4A4):c.4095A>G (p.Glu1365=) rs1966135663
NM_000092.5(COL4A4):c.436G>A (p.Gly146Ser) rs886055729
NM_000092.5(COL4A4):c.446G>T (p.Gly149Val) rs374815903
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.4760C>T (p.Pro1587Leu) rs190148408
NM_000092.5(COL4A4):c.4782C>G (p.Ser1594Arg) rs200799557
NM_000092.5(COL4A4):c.592C>T (p.Pro198Ser) rs1039244540
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.766C>T (p.Pro256Ser) rs773445256
NM_000092.5(COL4A4):c.805A>G (p.Lys269Glu) rs2150805428
NM_000092.5(COL4A4):c.816+12A>T rs886055728
NM_000092.5(COL4A4):c.817-6T>G rs2060623868
NM_000092.5(COL4A4):c.81_86del (p.27IL[1]) rs771943519
NM_000092.5(COL4A4):c.843T>C (p.Val281=) rs1335068296
NM_000092.5(COL4A4):c.846A>C (p.Gly282=) rs553087192
NM_000092.5(COL4A4):c.847C>A (p.Leu283Met) rs2060622187
NM_000092.5(COL4A4):c.870G>A (p.Lys290=) rs2060620860
NM_000092.5(COL4A4):c.930+5G>A
NM_000092.5(COL4A4):c.931-18dup rs746509796

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