ClinVar Miner

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

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Total variants: 58
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HGVS dbSNP
NM_000092.5(COL4A4):c.1030-14A>G
NM_000092.5(COL4A4):c.1129C>T (p.Arg377Cys) rs555143841
NM_000092.5(COL4A4):c.1396G>A (p.Gly466Arg) rs201859109
NM_000092.5(COL4A4):c.1459+5G>A
NM_000092.5(COL4A4):c.1820C>T (p.Ala607Val) rs373916569
NM_000092.5(COL4A4):c.2045A>G (p.Asp682Gly) rs142093416
NM_000092.5(COL4A4):c.204_212del (p.67PGP[1]) rs764884579
NM_000092.5(COL4A4):c.2138_2143dup (p.Gly713_Thr714dup) rs777985749
NM_000092.5(COL4A4):c.2152_2154dup (p.Pro718dup) rs1553644306
NM_000092.5(COL4A4):c.2161C>T (p.Pro721Ser)
NM_000092.5(COL4A4):c.2383+2_2383+5dup rs1553643488
NM_000092.5(COL4A4):c.2594del (p.Pro865fs)
NM_000092.5(COL4A4):c.2628_2654dup (p.Arg877_Gly885dup) rs1553641597
NM_000092.5(COL4A4):c.2630G>A (p.Arg877Gln) rs150979437
NM_000092.5(COL4A4):c.2717-5A>T rs1800519
NM_000092.5(COL4A4):c.2840G>A (p.Arg947Gln) rs373540400
NM_000092.5(COL4A4):c.2985C>T (p.Pro995=) rs79261248
NM_000092.5(COL4A4):c.3022G>A (p.Gly1008Arg) rs371172166
NM_000092.5(COL4A4):c.3044G>A (p.Gly1015Glu) rs764323652
NM_000092.5(COL4A4):c.3089G>T (p.Gly1030Val) rs772699709
NM_000092.5(COL4A4):c.347G>A (p.Gly116Glu) rs1553696235
NM_000092.5(COL4A4):c.3581T>C (p.Leu1194Ser)
NM_000092.5(COL4A4):c.3584ATG[1] (p.Asp1196del) rs780991255
NM_000092.5(COL4A4):c.3734G>T (p.Gly1245Val) rs1189502123
NM_000092.5(COL4A4):c.3738C>T (p.Ala1246=)
NM_000092.5(COL4A4):c.3849T>A (p.Ser1283Arg) rs1553625644
NM_000092.5(COL4A4):c.3976C>A (p.Pro1326Thr) rs754359129
NM_000092.5(COL4A4):c.3979G>A (p.Val1327Met) rs2229813
NM_000092.5(COL4A4):c.3983G>C (p.Gly1328Ala) rs1553624173
NM_000092.5(COL4A4):c.4003C>G (p.Pro1335Ala) rs1331634432
NM_000092.5(COL4A4):c.4021C>A (p.Pro1341Thr) rs539867676
NM_000092.5(COL4A4):c.4035G>C (p.Lys1345Asn) rs1369617472
NM_000092.5(COL4A4):c.4041A>T (p.Leu1347Phe) rs16823077
NM_000092.5(COL4A4):c.4049C>T (p.Pro1350Leu) rs771916354
NM_000092.5(COL4A4):c.4058G>A (p.Arg1353Lys) rs747708741
NM_000092.5(COL4A4):c.4070C>T (p.Thr1357Ile) rs1258564025
NM_000092.5(COL4A4):c.4081+14C>T rs1553623984
NM_000092.5(COL4A4):c.410G>A (p.Gly137Asp) rs377511303
NM_000092.5(COL4A4):c.4130G>A (p.Arg1377Gln)
NM_000092.5(COL4A4):c.4217G>C (p.Gly1406Ala) rs1364711591
NM_000092.5(COL4A4):c.428G>T (p.Gly143Val) rs1553695389
NM_000092.5(COL4A4):c.4298G>A (p.Gly1433Asp) rs1553614863
NM_000092.5(COL4A4):c.4333+3A>G rs1455105815
NM_000092.5(COL4A4):c.4394G>A (p.Gly1465Asp) rs533297350
NM_000092.5(COL4A4):c.4423G>T (p.Asp1475Tyr) rs767457222
NM_000092.5(COL4A4):c.4673C>T (p.Ala1558Val) rs760044982
NM_000092.5(COL4A4):c.4678C>T (p.Arg1560Cys) rs200973262
NM_000092.5(COL4A4):c.477AGG[3] (p.Gly161dup) rs1553695272
NM_000092.5(COL4A4):c.4817G>A (p.Gly1606Glu) rs767901025
NM_000092.5(COL4A4):c.4830AGG[2] (p.Gly1613del) rs768416358
NM_000092.5(COL4A4):c.4924C>T (p.His1642Tyr)
NM_000092.5(COL4A4):c.4945A>G (p.Ser1649Gly)
NM_000092.5(COL4A4):c.5029C>T (p.Arg1677Cys) rs759631057
NM_000092.5(COL4A4):c.5044C>T (p.Arg1682Trp) rs766550724
NM_000092.5(COL4A4):c.5048G>A (p.Cys1683Tyr) rs1386495377
NM_000092.5(COL4A4):c.5073G>C (p.Ter1691Tyr) rs769660371
NM_000092.5(COL4A4):c.680G>A (p.Arg227His) rs368248078
NM_000092.5(COL4A4):c.865C>T (p.Arg289Cys)

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