ClinVar Miner

List of variants reported as uncertain significance for Alport syndrome

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 293
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HGVS dbSNP
NM_000091.4(COL4A3):c.*1000C>T rs770149608
NM_000091.4(COL4A3):c.*1032G>A rs886055744
NM_000091.4(COL4A3):c.*1069_*1070delAA rs11297279
NM_000091.4(COL4A3):c.*1069_*1070dupAA rs11297279
NM_000091.4(COL4A3):c.*1070delA rs11297279
NM_000091.4(COL4A3):c.*1070dupA rs11297279
NM_000091.4(COL4A3):c.*1071G>A rs866036167
NM_000091.4(COL4A3):c.*1645delG rs886055747
NM_000091.4(COL4A3):c.*1739C>T rs750139996
NM_000091.4(COL4A3):c.*1764A>G rs577379452
NM_000091.4(COL4A3):c.*1918T>C rs767668198
NM_000091.4(COL4A3):c.*2048C>G rs886055748
NM_000091.4(COL4A3):c.*2145A>C rs115394347
NM_000091.4(COL4A3):c.*2180C>T rs886055749
NM_000091.4(COL4A3):c.*2182C>T rs114535536
NM_000091.4(COL4A3):c.*2228T>C rs367785196
NM_000091.4(COL4A3):c.*2272T>C rs886055750
NM_000091.4(COL4A3):c.*2308T>C rs886055751
NM_000091.4(COL4A3):c.*406G>A rs759265728
NM_000091.4(COL4A3):c.*647T>G rs183552783
NM_000091.4(COL4A3):c.*660T>C rs557009121
NM_000091.4(COL4A3):c.*811A>C rs116568659
NM_000091.4(COL4A3):c.-134T>C rs886055734
NM_000091.4(COL4A3):c.-13G>C rs770803750
NM_000091.4(COL4A3):c.-146G>C rs886055733
NM_000091.4(COL4A3):c.-16T>C rs886055736
NM_000091.4(COL4A3):c.-81G>C rs886055735
NM_000091.4(COL4A3):c.1022G>A (p.Arg341His) rs200738124
NM_000091.4(COL4A3):c.112C>G (p.Gln38Glu) rs201607115
NM_000091.4(COL4A3):c.1153_1155TCA[1] (p.Ser386del) rs1553755078
NM_000091.4(COL4A3):c.1256C>A (p.Ser419Tyr) rs201031986
NM_000091.4(COL4A3):c.1295C>T (p.Pro432Leu) rs534253913
NM_000091.4(COL4A3):c.1367_1369del (p.Tyr456del) rs762420854
NM_000091.4(COL4A3):c.1423C>G (p.Leu475Val) rs886055738
NM_000091.4(COL4A3):c.1459G>T (p.Gly487Cys) rs745472969
NM_000091.4(COL4A3):c.145G>A (p.Gly49Arg) rs1553749403
NM_000091.4(COL4A3):c.1483C>T (p.His495Tyr) rs200510532
NM_000091.4(COL4A3):c.1516G>A (p.Ala506Thr) rs188967260
NM_000091.4(COL4A3):c.1687G>A (p.Gly563Arg) rs1553757060
NM_000091.4(COL4A3):c.172G>A (p.Gly58Ser) rs184730597
NM_000091.4(COL4A3):c.1892G>T (p.Gly631Val) rs1315862965
NM_000091.4(COL4A3):c.1909G>A (p.Gly637Arg) rs761686437
NM_000091.4(COL4A3):c.1927G>A (p.Gly643Ser) rs778034451
NM_000091.4(COL4A3):c.1928-4T>C rs376327706
NM_000091.4(COL4A3):c.1978C>A (p.Pro660Thr) rs773674552
NM_000091.4(COL4A3):c.2021-9G>C rs773021303
NM_000091.4(COL4A3):c.2115T>A (p.Pro705=) rs201419174
NM_000091.4(COL4A3):c.221C>T (p.Pro74Leu) rs373975901
NM_000091.4(COL4A3):c.2374+9dup rs1553759691
NM_000091.4(COL4A3):c.2489-8G>A rs201846272
NM_000091.4(COL4A3):c.250C>A (p.Pro84Thr) rs572059687
NM_000091.4(COL4A3):c.2610G>A (p.Leu870=) rs886039889
NM_000091.4(COL4A3):c.2747-11C>A rs886055739
NM_000091.4(COL4A3):c.2765G>T (p.Gly922Val) rs920413118
NM_000091.4(COL4A3):c.2827G>A (p.Gly943Arg) rs1265432530
NM_000091.4(COL4A3):c.2881+6G>T rs886055740
NM_000091.4(COL4A3):c.2990G>A (p.Gly997Glu) rs1553762113
NM_000091.4(COL4A3):c.3189_3197dup (p.1064_1066PGP[3]) rs1553762295
NM_000091.4(COL4A3):c.3196C>T (p.Pro1066Ser) rs377003650
NM_000091.4(COL4A3):c.3200C>G (p.Pro1067Arg) rs55849096
NM_000091.4(COL4A3):c.3228G>A (p.Pro1076=) rs200125890
NM_000091.4(COL4A3):c.3258G>A (p.Gly1086=) rs147085074
NM_000091.4(COL4A3):c.3270A>C (p.Pro1090=) rs201989155
NM_000091.4(COL4A3):c.3416C>T (p.Pro1139Leu) rs1057516186
NM_000091.4(COL4A3):c.3419-8T>G rs754483986
NM_000091.4(COL4A3):c.352G>A (p.Gly118Arg) rs1293137291
NM_000091.4(COL4A3):c.3566-10T>C rs114719458
NM_000091.4(COL4A3):c.3566-9T>C rs147886850
NM_000091.4(COL4A3):c.3662_3664del (p.Glu1221del) rs756342074
NM_000091.4(COL4A3):c.3691G>A (p.Gly1231Ser) rs761518401
NM_000091.4(COL4A3):c.3790A>G (p.Ile1264Val) rs1553764410
NM_000091.4(COL4A3):c.3829G>A (p.Gly1277Ser) rs190598500
NM_000091.4(COL4A3):c.386A>C (p.Lys129Thr) rs886055737
NM_000091.4(COL4A3):c.3882+10G>A rs78980950
NM_000091.4(COL4A3):c.3939G>A (p.Gly1313=) rs141552752
NM_000091.4(COL4A3):c.3945A>G (p.Pro1315=) rs189574905
NM_000091.4(COL4A3):c.3956-8_3956-5delGTTT rs779522146
NM_000091.4(COL4A3):c.39_47dup (p.Pro15_Leu17dup) rs1476762825
NM_000091.4(COL4A3):c.4100G>C (p.Gly1367Ala) rs886055742
NM_000091.4(COL4A3):c.4153+10T>C rs865866667
NM_000091.4(COL4A3):c.4253-14T>C rs747386514
NM_000091.4(COL4A3):c.4295G>A (p.Arg1432His) rs200509072
NM_000091.4(COL4A3):c.4326_4328del (p.Thr1443del) rs941454321
NM_000091.4(COL4A3):c.441G>A (p.Pro147=) rs373559251
NM_000091.4(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125
NM_000091.4(COL4A3):c.443G>T (p.Gly148Val) rs775373641
NM_000091.4(COL4A3):c.4482G>A (p.Leu1494=) rs181952966
NM_000091.4(COL4A3):c.4494C>G (p.Thr1498=) rs200454769
NM_000091.4(COL4A3):c.4502C>A (p.Pro1501Gln) rs1553766363
NM_000091.4(COL4A3):c.4504T>C (p.Phe1502Leu) rs1553766367
NM_000091.4(COL4A3):c.4510T>C (p.Phe1504Leu) rs201671013
NM_000091.4(COL4A3):c.4523A>G (p.Asn1508Ser) rs200512461
NM_000091.4(COL4A3):c.4615_4617dup (p.Arg1539dup) rs773268719
NM_000091.4(COL4A3):c.4691C>T (p.Thr1564Ile) rs886055743
NM_000091.4(COL4A3):c.469G>C (p.Gly157Arg) rs764451365
NM_000091.4(COL4A3):c.4756-13A>T rs190701197
NM_000091.4(COL4A3):c.4798_4800del (p.Ser1600del) rs775551399
NM_000091.4(COL4A3):c.4825C>A (p.Arg1609=) rs756231749
NM_000091.4(COL4A3):c.4882T>G (p.Ser1628Ala) rs773905198
NM_000091.4(COL4A3):c.4893C>T (p.Phe1631=) rs183218622
NM_000091.4(COL4A3):c.4976dup (p.Ser1660fs) rs1553766929
NM_000091.4(COL4A3):c.4977_4979dup (p.Ser1660_Arg1661insArg) rs1553766932
NM_000091.4(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532
NM_000091.4(COL4A3):c.4994G>A (p.Cys1665Tyr) rs376550779
NM_000091.4(COL4A3):c.5010_*14del (p.His1670_Ter1671delinsXaa) rs765655100
NM_000091.4(COL4A3):c.516C>T (p.Asp172=) rs759455097
NM_000091.4(COL4A3):c.688-8G>T rs748843785
NM_000091.4(COL4A3):c.765G>A (p.Thr255=) rs869025328
NM_000092.4(COL4A4):c.*1073delC rs149522920
NM_000092.4(COL4A4):c.*1112G>A rs886055717
NM_000092.4(COL4A4):c.*1242C>T rs886055716
NM_000092.4(COL4A4):c.*128G>A rs886055722
NM_000092.4(COL4A4):c.*1346T>C rs55869005
NM_000092.4(COL4A4):c.*1349A>C rs886055715
NM_000092.4(COL4A4):c.*1423T>C rs886055714
NM_000092.4(COL4A4):c.*1687T>G rs538453112
NM_000092.4(COL4A4):c.*1802T>A rs886055713
NM_000092.4(COL4A4):c.*1914A>T rs886055712
NM_000092.4(COL4A4):c.*2033G>A rs886055711
NM_000092.4(COL4A4):c.*2069T>C rs886055710
NM_000092.4(COL4A4):c.*2119_*2120dupAA rs56983325
NM_000092.4(COL4A4):c.*2120dupA rs56983325
NM_000092.4(COL4A4):c.*2259G>A rs886055708
NM_000092.4(COL4A4):c.*22C>A rs562265530
NM_000092.4(COL4A4):c.*2311C>T rs77079951
NM_000092.4(COL4A4):c.*2945T>C rs886055707
NM_000092.4(COL4A4):c.*3159C>A rs559222889
NM_000092.4(COL4A4):c.*321A>G rs886055721
NM_000092.4(COL4A4):c.*3269A>G rs185029960
NM_000092.4(COL4A4):c.*3299A>G rs886055706
NM_000092.4(COL4A4):c.*3410_*3411delTT rs528949461
NM_000092.4(COL4A4):c.*3461A>G rs886055705
NM_000092.4(COL4A4):c.*3467C>G rs752632630
NM_000092.4(COL4A4):c.*3636C>T rs147995299
NM_000092.4(COL4A4):c.*3639T>C rs193239835
NM_000092.4(COL4A4):c.*3690A>G rs149243282
NM_000092.4(COL4A4):c.*3712T>G rs535103151
NM_000092.4(COL4A4):c.*3876G>A rs184473858
NM_000092.4(COL4A4):c.*3938A>G rs192161029
NM_000092.4(COL4A4):c.*3940T>C rs886055704
NM_000092.4(COL4A4):c.*3948C>T rs886055703
NM_000092.4(COL4A4):c.*4004_*4005delAA rs532937469
NM_000092.4(COL4A4):c.*4102dupT rs370056635
NM_000092.4(COL4A4):c.*4106C>A rs886055702
NM_000092.4(COL4A4):c.*4135A>T rs886055701
NM_000092.4(COL4A4):c.*4164C>T rs147109071
NM_000092.4(COL4A4):c.*4173A>T rs529259159
NM_000092.4(COL4A4):c.*4369C>T rs886055700
NM_000092.4(COL4A4):c.*4385A>G rs574071910
NM_000092.4(COL4A4):c.*4393G>T rs886055699
NM_000092.4(COL4A4):c.*4534T>C rs767613572
NM_000092.4(COL4A4):c.*4583A>G rs886055698
NM_000092.4(COL4A4):c.*472A>T rs77268230
NM_000092.4(COL4A4):c.*48G>A rs767600758
NM_000092.4(COL4A4):c.*569C>A rs772402371
NM_000092.4(COL4A4):c.*755T>C rs191394048
NM_000092.4(COL4A4):c.*833C>T rs886055720
NM_000092.4(COL4A4):c.*841G>A rs11556632
NM_000092.4(COL4A4):c.*857G>A rs80142712
NM_000092.4(COL4A4):c.*863C>G rs886055719
NM_000092.4(COL4A4):c.*864C>G rs886055718
NM_000092.4(COL4A4):c.-102+10C>G rs867845285
NM_000092.4(COL4A4):c.-134C>G rs530247030
NM_000092.4(COL4A4):c.-177G>A rs886055730
NM_000092.4(COL4A4):c.-341G>A rs886055731
NM_000092.4(COL4A4):c.-408G>A rs554839865
NM_000092.4(COL4A4):c.-527G>A rs886055732
NM_000092.4(COL4A4):c.-555G>A rs79908084
NM_000092.4(COL4A4):c.-79C>T rs55836847
NM_000092.4(COL4A4):c.1129C>T (p.Arg377Cys) rs555143841
NM_000092.4(COL4A4):c.1379G>A (p.Cys460Tyr) rs753659852
NM_000092.4(COL4A4):c.1435G>C (p.Gly479Arg) rs202210475
NM_000092.4(COL4A4):c.1767T>A (p.Asp589Glu) rs886055727
NM_000092.4(COL4A4):c.1820C>T (p.Ala607Val) rs373916569
NM_000092.4(COL4A4):c.1893A>G (p.Gly631=) rs370886041
NM_000092.4(COL4A4):c.190C>T (p.Arg64Trp) rs200668675
NM_000092.4(COL4A4):c.193-9C>G rs190570269
NM_000092.4(COL4A4):c.1963C>T (p.Pro655Ser) rs886055726
NM_000092.4(COL4A4):c.2045A>G (p.Asp682Gly) rs142093416
NM_000092.4(COL4A4):c.204_212del (p.67_69PGP[1]) rs764884579
NM_000092.4(COL4A4):c.2079C>T (p.Pro693=) rs200010601
NM_000092.4(COL4A4):c.2138_2143dup (p.Gly713_Thr714dup) rs777985749
NM_000092.4(COL4A4):c.2152_2154dup (p.Pro718dup) rs1553644306
NM_000092.4(COL4A4):c.2159C>T (p.Pro720Leu) rs749186337
NM_000092.4(COL4A4):c.2171G>A (p.Arg724His) rs200146486
NM_000092.4(COL4A4):c.2335C>G (p.Pro779Ala) rs886055725
NM_000092.4(COL4A4):c.2367A>T (p.Gly789=) rs56247709
NM_000092.4(COL4A4):c.2378C>T (p.Ala793Val) rs377676207
NM_000092.4(COL4A4):c.2383+2_2383+5dup rs1553643488
NM_000092.4(COL4A4):c.2399C>G (p.Pro800Arg) rs200714000
NM_000092.4(COL4A4):c.2430C>G (p.Gly810=) rs769363556
NM_000092.4(COL4A4):c.2516C>T (p.Pro839Leu) rs199562472
NM_000092.4(COL4A4):c.2549C>T (p.Ala850Val) rs758199486
NM_000092.4(COL4A4):c.2586T>C (p.Pro862=) rs761238651
NM_000092.4(COL4A4):c.2628_2654dup (p.Arg877_Gly885dup) rs1553641597
NM_000092.4(COL4A4):c.2630G>A (p.Arg877Gln) rs150979437
NM_000092.4(COL4A4):c.2717-15C>A rs143886681
NM_000092.4(COL4A4):c.2717-5A>T rs1800519
NM_000092.4(COL4A4):c.2756A>G (p.Glu919Gly) rs753208968
NM_000092.4(COL4A4):c.2840G>A (p.Arg947Gln) rs373540400
NM_000092.4(COL4A4):c.2877C>T (p.Pro959=) rs79470996
NM_000092.4(COL4A4):c.2985C>T (p.Pro995=) rs79261248
NM_000092.4(COL4A4):c.3022G>A (p.Gly1008Arg) rs371172166
NM_000092.4(COL4A4):c.3044G>A (p.Gly1015Glu) rs764323652
NM_000092.4(COL4A4):c.3089G>T (p.Gly1030Val) rs772699709
NM_000092.4(COL4A4):c.3103A>G (p.Thr1035Ala) rs1553638898
NM_000092.4(COL4A4):c.347G>A (p.Gly116Glu) rs1553696235
NM_000092.4(COL4A4):c.3577+14C>T rs370328730
NM_000092.4(COL4A4):c.3584_3586ATG[1] (p.Asp1196del) rs780991255
NM_000092.4(COL4A4):c.3770C>T (p.Pro1257Leu) rs755884665
NM_000092.4(COL4A4):c.3829C>T (p.Pro1277Ser) rs1037084154
NM_000092.4(COL4A4):c.3849T>A (p.Ser1283Arg) rs1553625644
NM_000092.4(COL4A4):c.3878A>G (p.Asp1293Gly) rs1559450506
NM_000092.4(COL4A4):c.3976C>A (p.Pro1326Thr) rs754359129
NM_000092.4(COL4A4):c.3983G>C (p.Gly1328Ala) rs1553624173
NM_000092.4(COL4A4):c.4003C>G (p.Pro1335Ala) rs1331634432
NM_000092.4(COL4A4):c.4021C>A (p.Pro1341Thr) rs539867676
NM_000092.4(COL4A4):c.4035G>C (p.Lys1345Asn) rs1369617472
NM_000092.4(COL4A4):c.4041A>T (p.Leu1347Phe) rs16823077
NM_000092.4(COL4A4):c.4049C>T (p.Pro1350Leu) rs771916354
NM_000092.4(COL4A4):c.4058G>A (p.Arg1353Lys) rs747708741
NM_000092.4(COL4A4):c.4070C>T (p.Thr1357Ile) rs1258564025
NM_000092.4(COL4A4):c.4081+14C>T rs1553623984
NM_000092.4(COL4A4):c.4082-8C>T rs139571413
NM_000092.4(COL4A4):c.4090+14T>C rs147376687
NM_000092.4(COL4A4):c.410G>A (p.Gly137Asp) rs377511303
NM_000092.4(COL4A4):c.4195A>T (p.Met1399Leu) rs149117087
NM_000092.4(COL4A4):c.4217-15T>C rs200926310
NM_000092.4(COL4A4):c.4217G>C (p.Gly1406Ala) rs1364711591
NM_000092.4(COL4A4):c.428G>T (p.Gly143Val) rs1553695389
NM_000092.4(COL4A4):c.4298G>A (p.Gly1433Asp) rs1553614863
NM_000092.4(COL4A4):c.4333+3A>G rs1455105815
NM_000092.4(COL4A4):c.4349T>C (p.Ile1450Thr) rs72969704
NM_000092.4(COL4A4):c.436G>A (p.Gly146Ser) rs886055729
NM_000092.4(COL4A4):c.4394G>A (p.Gly1465Asp) rs533297350
NM_000092.4(COL4A4):c.4417C>A (p.Gln1473Lys) rs766771700
NM_000092.4(COL4A4):c.4421C>T (p.Thr1474Met) rs201615111
NM_000092.4(COL4A4):c.4423G>T (p.Asp1475Tyr) rs767457222
NM_000092.4(COL4A4):c.4440C>G (p.Cys1480Trp)
NM_000092.4(COL4A4):c.4472A>G (p.Tyr1491Cys) rs1553613772
NM_000092.4(COL4A4):c.4640C>T (p.Ala1547Val) rs780916516
NM_000092.4(COL4A4):c.4673C>T (p.Ala1558Val) rs760044982
NM_000092.4(COL4A4):c.4678C>T (p.Arg1560Cys) rs200973262
NM_000092.4(COL4A4):c.4718C>T (p.Ala1573Val)
NM_000092.4(COL4A4):c.4725G>A (p.Ala1575=) rs886055724
NM_000092.4(COL4A4):c.4730_4732del (p.Ala1577del) rs1559395809
NM_000092.4(COL4A4):c.475C>T (p.Pro159Ser) rs760873029
NM_000092.4(COL4A4):c.477_479AGG[3] (p.Gly161dup) rs1553695272
NM_000092.4(COL4A4):c.4817G>A (p.Gly1606Glu) rs767901025
NM_000092.4(COL4A4):c.4830_4832AGG[2] (p.Gly1613del) rs768416358
NM_000092.4(COL4A4):c.4857T>C (p.Pro1619=) rs184776061
NM_000092.4(COL4A4):c.4862G>A (p.Ser1621Asn) rs886055723
NM_000092.4(COL4A4):c.4982T>A (p.Phe1661Tyr) rs374119389
NM_000092.4(COL4A4):c.5015A>C (p.Glu1672Ala) rs1354826968
NM_000092.4(COL4A4):c.5016A>G (p.Glu1672=) rs34761049
NM_000092.4(COL4A4):c.5029C>T (p.Arg1677Cys) rs759631057
NM_000092.4(COL4A4):c.5044C>T (p.Arg1682Trp) rs766550724
NM_000092.4(COL4A4):c.5048G>A (p.Cys1683Tyr) rs1386495377
NM_000092.4(COL4A4):c.5073G>C (p.Ter1691Tyr) rs769660371
NM_000092.4(COL4A4):c.541G>T (p.Ala181Ser) rs200707549
NM_000092.4(COL4A4):c.665C>T (p.Pro222Leu) rs773533313
NM_000092.4(COL4A4):c.673C>A (p.Pro225Thr)
NM_000092.4(COL4A4):c.735G>A (p.Pro245=) rs923865420
NM_000092.4(COL4A4):c.736-10T>G rs201175819
NM_000092.4(COL4A4):c.816+12A>T rs886055728
NM_000092.4(COL4A4):c.928C>T (p.Arg310Trp) rs200817090
NM_000092.4(COL4A4):c.931-14dupT rs746509796
NM_000495.5(COL4A5):c.*48_*49insAT rs1556464307
NM_000495.5(COL4A5):c.1499G>T (p.Gly500Val) rs1569493670
NM_000495.5(COL4A5):c.1520C>A (p.Ser507Tyr) rs1114167369
NM_000495.5(COL4A5):c.1683A>T (p.Gly561=) rs1569494020
NM_000495.5(COL4A5):c.1969C>A (p.Gln657Lys) rs1569494866
NM_000495.5(COL4A5):c.2145A>G (p.Lys715=) rs1569495067
NM_000495.5(COL4A5):c.2215C>G (p.Pro739Ala)
NM_000495.5(COL4A5):c.2245-14T>A rs1569495752
NM_000495.5(COL4A5):c.236A>T (p.Asp79Val) rs775277548
NM_000495.5(COL4A5):c.2510-33A>G rs104886358
NM_000495.5(COL4A5):c.262C>T (p.Pro88Ser)
NM_000495.5(COL4A5):c.2692A>G (p.Met898Val) rs104886192
NM_000495.5(COL4A5):c.2858G>T (p.Gly953Val) rs78972735
NM_000495.5(COL4A5):c.3148C>G (p.Pro1050Ala) rs143945573
NM_000495.5(COL4A5):c.3455-8T>G rs1569505503
NM_000495.5(COL4A5):c.4054C>A (p.Leu1352Ile)
NM_000495.5(COL4A5):c.4228C>T (p.Arg1410Cys) rs104886270
NM_000495.5(COL4A5):c.4396C>T (p.Arg1466Cys)
NM_000495.5(COL4A5):c.4532G>A (p.Arg1511His) rs104886285
NM_000495.5(COL4A5):c.4549C>A (p.Pro1517Thr) rs201220208
NM_000495.5(COL4A5):c.4568T>C (p.Ile1523Thr) rs749580257
NM_000495.5(COL4A5):c.466-17T>G rs104886415
NM_000495.5(COL4A5):c.4688+4A>C rs1569508999
NM_000495.5(COL4A5):c.4877C>T (p.Ser1626Leu) rs1556463567
NM_000495.5(COL4A5):c.488T>C (p.Met163Thr) rs142503631
NM_000495.5(COL4A5):c.4976+3A>G rs1569509373

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