ClinVar Miner

List of variants in gene COL4A4 studied for autosomal recessive Alport syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 136
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HGVS dbSNP
GRCh37/hg19 2q36.3(chr2:227942610-227945265)
NM_000092.4(COL4A4):c.1029+2T>C rs1553682895
NM_000092.4(COL4A4):c.1030-2A>C rs1553681714
NM_000092.4(COL4A4):c.1033_1050del (p.Asp345_Gly350del) rs990679247
NM_000092.4(COL4A4):c.1118G>A (p.Gly373Glu) rs755649235
NM_000092.4(COL4A4):c.1129C>T (p.Arg377Cys) rs555143841
NM_000092.4(COL4A4):c.114+1G>C rs1553712110
NM_000092.4(COL4A4):c.1320_1369+2del rs1553676221
NM_000092.4(COL4A4):c.1323_1340del (p.Pro444_Leu449del) rs773081522
NM_000092.4(COL4A4):c.1327_1344del (p.Pro444_Leu449del) rs1203564054
NM_000092.4(COL4A4):c.1369+1G>A rs1553676230
NM_000092.4(COL4A4):c.1396G>A (p.Gly466Arg) rs201859109
NM_000092.4(COL4A4):c.1405G>T (p.Gly469Ter) rs926605269
NM_000092.4(COL4A4):c.1579G>T (p.Gly527Cys) rs779930511
NM_000092.4(COL4A4):c.1598G>A (p.Gly533Asp) rs1553669704
NM_000092.4(COL4A4):c.1696+1G>A rs954701825
NM_000092.4(COL4A4):c.1696+1G>T rs954701825
NM_000092.4(COL4A4):c.1715G>C (p.Gly572Ala) rs1446915781
NM_000092.4(COL4A4):c.1781A>G (p.Glu594Gly) rs35998949
NM_000092.4(COL4A4):c.1820C>T (p.Ala607Val) rs373916569
NM_000092.4(COL4A4):c.1935_1952del (p.Pro647_Val652del) rs1553658892
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.2084G>A (p.Gly695Asp) rs1553644402
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.2242G>A (p.Gly748Ser) rs762139460
NM_000092.4(COL4A4):c.2279dup (p.Asp761fs) rs1553643669
NM_000092.4(COL4A4):c.2320G>C rs569681869
NM_000092.4(COL4A4):c.2374G>A (p.Gly792Arg) rs768003309
NM_000092.4(COL4A4):c.2510G>C (p.Gly837Ala) rs201648982
NM_000092.4(COL4A4):c.2546-1G>C rs1553641728
NM_000092.4(COL4A4):c.2590G>A (p.Gly864Arg) rs937550597
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.2638_2639del (p.Ala880fs) rs1553641611
NM_000092.4(COL4A4):c.2638del (p.Ala880fs) rs778043831
NM_000092.4(COL4A4):c.2662G>A (p.Gly888Arg) rs1363277825
NM_000092.4(COL4A4):c.2690G>A (p.Gly897Glu) rs121912860
NM_000092.4(COL4A4):c.2717-5A>T rs1800519
NM_000092.4(COL4A4):c.2840G>A (p.Arg947Gln) rs373540400
NM_000092.4(COL4A4):c.2878G>A (p.Gly960Arg) rs769783985
NM_000092.4(COL4A4):c.2967_2968delAG rs748473278
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>A (p.Gly1030Asp) rs772699709
NM_000092.4(COL4A4):c.3089G>T (p.Gly1030Val) rs772699709
NM_000092.4(COL4A4):c.3151-2A>G rs1369097739
NM_000092.4(COL4A4):c.328-1G>A rs754669149
NM_000092.4(COL4A4):c.3307G>A (p.Gly1103Arg) rs749299357
NM_000092.4(COL4A4):c.347G>A (p.Gly116Glu) rs1553696235
NM_000092.4(COL4A4):c.3587_3589delATG rs780991255
NM_000092.4(COL4A4):c.3601G>A (p.Gly1201Ser) rs121912858
NM_000092.4(COL4A4):c.3713C>A (p.Ser1238Ter) rs121912859
NM_000092.4(COL4A4):c.372+2T>G rs1553696207
NM_000092.4(COL4A4):c.3734G>T (p.Gly1245Val) rs1189502123
NM_000092.4(COL4A4):c.3849T>A (p.Ser1283Arg) rs1553625644
NM_000092.4(COL4A4):c.3861delinsCTC (p.Arg1288fs) rs1575895541
NM_000092.4(COL4A4):c.3967C>T (p.Gln1323Ter) rs1489351299
NM_000092.4(COL4A4):c.3976C>A (p.Pro1326Thr) rs754359129
NM_000092.4(COL4A4):c.3978A>G (p.Pro1326=) rs780675797
NM_000092.4(COL4A4):c.3983G>C (p.Gly1328Ala) rs1553624173
NM_000092.4(COL4A4):c.3984A>T (p.Gly1328=) rs750748339
NM_000092.4(COL4A4):c.4002_4005dup (p.His1336fs) rs1553624127
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.4038T>C (p.Gly1346=) rs565940301
NM_000092.4(COL4A4):c.4041A>G (p.Leu1347=) rs16823077
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.4053A>G (p.Pro1351=) rs1553624041
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.4081+15T>C rs1356475870
NM_000092.4(COL4A4):c.4081+22A>C rs1553623967
NM_000092.4(COL4A4):c.4081+22A>G rs1553623967
NM_000092.4(COL4A4):c.4081+7T>C rs779775976
NM_000092.4(COL4A4):c.4091-323A>G rs774221440
NM_000092.4(COL4A4):c.4091-330T>C rs774439386
NM_000092.4(COL4A4):c.4091-336C>T rs925971110
NM_000092.4(COL4A4):c.4091-346A>G rs753906137
NM_000092.4(COL4A4):c.4091-348T>C rs1553620812
NM_000092.4(COL4A4):c.4091-349G>A rs1434118080
NM_000092.4(COL4A4):c.4091-356_4091-355dup rs1553620826
NM_000092.4(COL4A4):c.410G>A (p.Gly137Asp) rs377511303
NM_000092.4(COL4A4):c.4129C>T (p.Arg1377Ter) rs121912861
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+2T>C rs755927061
NM_000092.4(COL4A4):c.4394G>A (p.Gly1465Asp) rs533297350
NM_000092.4(COL4A4):c.4423G>T (p.Asp1475Tyr) rs767457222
NM_000092.4(COL4A4):c.446G>T (p.Gly149Val) rs374815903
NM_000092.4(COL4A4):c.4599T>G (p.Tyr1533Ter) rs369922627
NM_000092.4(COL4A4):c.4623C>G (p.Tyr1541Ter) rs891854419
NM_000092.4(COL4A4):c.4673C>T (p.Ala1558Val) rs760044982
NM_000092.4(COL4A4):c.4679_4683del (p.Arg1560fs) rs1553612499
NM_000092.4(COL4A4):c.4694_4713del (p.Arg1565fs) rs1553612433
NM_000092.4(COL4A4):c.4708G>A (p.Glu1570Lys) rs757328549
NM_000092.4(COL4A4):c.4715C>T (p.Pro1572Leu) rs121912863
NM_000092.4(COL4A4):c.4760del (p.Pro1587fs) rs1206142672
NM_000092.4(COL4A4):c.4809+1G>A rs1553612309
NM_000092.4(COL4A4):c.480_482dup rs1553695272
NM_000092.4(COL4A4):c.4817G>A (p.Gly1606Glu) rs767901025
NM_000092.4(COL4A4):c.4836_4838delAGG rs768416358
NM_000092.4(COL4A4):c.4903C>T (p.Gln1635Ter) rs1553611947
NM_000092.4(COL4A4):c.4923C>A (p.Cys1641Ter) rs121912862
NM_000092.4(COL4A4):c.4932delinsTT (p.Ala1645fs) rs1553611909
NM_000092.4(COL4A4):c.4948T>C (p.Phe1650Leu) rs1553611876
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.559_562dup (p.Asp188Glyfs) rs1553690604
NM_000092.4(COL4A4):c.644_646del (p.Glu215_Pro216delinsAla) rs1553688712
NM_000092.4(COL4A4):c.657+1G>T rs1553688696
NM_000092.4(COL4A4):c.673_680del (p.Pro225fs) rs1553688330
NM_000092.4(COL4A4):c.680G>A (p.Arg227His) rs368248078
NM_000092.4(COL4A4):c.71G>A (p.Trp24Ter) rs1201925443
NM_000092.4(COL4A4):c.871-1G>C rs375450996
NM_000092.4(COL4A4):c.975+1G>A rs1553683192
NM_000092.4(COL4A4):c.975+1G>C rs1553683192
NM_000092.4(COL4A4):c.[1320_1369+2del];[2320G>C]
NM_000092.5(COL4A4):c.2383+2_2383+5dup rs1553643488
NM_000092.5(COL4A4):c.2899A>G (p.Ile967Val) rs80243096
NM_000092.5(COL4A4):c.2906C>G rs35138315
NM_000092.5(COL4A4):c.2940dup (p.Gly981fs)
NM_000092.5(COL4A4):c.3574_3577+8del rs1553627655
NM_000092.5(COL4A4):c.3581T>C (p.Leu1194Ser)
NM_000092.5(COL4A4):c.4333+3A>G rs1455105815
NM_000092.5(COL4A4):c.4603_4604del (p.Gln1535fs)
NM_000092.5(COL4A4):c.594+1G>A rs1553690565
NM_000092.5(COL4A4):c.755G>A (p.Gly252Asp)
NM_000092.5(COL4A4):c.948T>C (p.Tyr316=) rs34509421

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