ClinVar Miner

List of variants studied for Alport syndrome by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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ClinVar version:
Total variants: 131
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HGVS dbSNP gnomAD frequency
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125 0.00257
NM_000091.5(COL4A3):c.4523A>G (p.Asn1508Ser) rs200512461 0.00022
NM_000092.5(COL4A4):c.4715C>T (p.Pro1572Leu) rs121912863 0.00019
NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg) rs200287952 0.00016
NM_000092.5(COL4A4):c.2161C>T (p.Pro721Ser) rs200759521 0.00012
NM_000091.5(COL4A3):c.1790C>T (p.Pro597Leu) rs781163705 0.00011
NM_000092.5(COL4A4):c.2906C>G (p.Ser969Ter) rs35138315 0.00011
NM_000092.5(COL4A4):c.4678C>T (p.Arg1560Cys) rs200973262 0.00008
NM_000091.5(COL4A3):c.11G>A (p.Arg4Gln) rs921905047 0.00007
NM_000092.5(COL4A4):c.3532G>A (p.Gly1178Ser) rs780504632 0.00007
NM_000092.5(COL4A4):c.4421C>T (p.Thr1474Met) rs201615111 0.00005
NM_000091.5(COL4A3):c.172G>A (p.Gly58Ser) rs184730597 0.00004
NM_000092.5(COL4A4):c.2320G>C (p.Gly774Arg) rs569681869 0.00004
NM_000092.5(COL4A4):c.2516C>T (p.Pro839Leu) rs199562472 0.00004
NM_000092.5(COL4A4):c.4394G>A (p.Gly1465Asp) rs533297350 0.00004
NM_000091.5(COL4A3):c.4994G>A (p.Cys1665Tyr) rs376550779 0.00003
NM_000091.5(COL4A3):c.469G>C (p.Gly157Arg) rs764451365 0.00002
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg) rs772708743 0.00002
NM_000092.5(COL4A4):c.1223G>A (p.Gly408Glu) rs1026613471 0.00002
NM_000092.5(COL4A4):c.1396G>A (p.Gly466Arg) rs201859109 0.00002
NM_000092.5(COL4A4):c.2752G>A (p.Gly918Arg) rs372606845 0.00002
NM_000092.5(COL4A4):c.2878G>A (p.Gly960Arg) rs769783985 0.00002
NM_000091.5(COL4A3):c.1855G>A (p.Gly619Arg) rs773515249 0.00001
NM_000091.5(COL4A3):c.1909G>A (p.Gly637Arg) rs761686437 0.00001
NM_000091.5(COL4A3):c.1A>C (p.Met1Leu) rs1396602090 0.00001
NM_000091.5(COL4A3):c.2224-2A>G rs1246102682 0.00001
NM_000091.5(COL4A3):c.2452G>A (p.Gly818Arg) rs868002181 0.00001
NM_000091.5(COL4A3):c.3472G>C (p.Gly1158Arg) rs914878176 0.00001
NM_000091.5(COL4A3):c.3499G>A (p.Gly1167Arg) rs267606745 0.00001
NM_000091.5(COL4A3):c.443G>T (p.Gly148Val) rs775373641 0.00001
NM_000091.5(COL4A3):c.4826G>A (p.Arg1609Gln) rs1380878336 0.00001
NM_000092.5(COL4A4):c.2182G>A (p.Gly728Arg) rs202243658 0.00001
NM_000092.5(COL4A4):c.2392G>A (p.Gly798Ser) rs760803228 0.00001
NM_000092.5(COL4A4):c.4217G>C (p.Gly1406Ala) rs1364711591 0.00001
NM_000092.5(COL4A4):c.4288G>A (p.Gly1430Arg) rs775926807 0.00001
NM_000092.5(COL4A4):c.4787G>A (p.Trp1596Ter) rs1222429942 0.00001
NM_000091.5(COL4A3):c.1006G>T (p.Gly336Cys) rs1559873550
NM_000091.5(COL4A3):c.1103G>A (p.Arg368His)
NM_000091.5(COL4A3):c.1132G>A (p.Gly378Arg) rs2125961933
NM_000091.5(COL4A3):c.1174G>A (p.Gly392Arg) rs2070734616
NM_000091.5(COL4A3):c.1184G>A (p.Gly395Glu) rs1131691738
NM_000091.5(COL4A3):c.1307G>C (p.Gly436Ala)
NM_000091.5(COL4A3):c.1408+1G>C
NM_000091.5(COL4A3):c.1679G>T (p.Gly560Val) rs2071193842
NM_000091.5(COL4A3):c.1750G>T (p.Gly584Cys) rs2125991456
NM_000091.5(COL4A3):c.1927+1G>A
NM_000091.5(COL4A3):c.2044T>G (p.Cys682Gly)
NM_000091.5(COL4A3):c.2125G>T (p.Gly709Ter)
NM_000091.5(COL4A3):c.2135G>T (p.Gly712Val) rs2071832975
NM_000091.5(COL4A3):c.2162del (p.Gly721fs) rs1399954090
NM_000091.5(COL4A3):c.2263C>T (p.Pro755Ser)
NM_000091.5(COL4A3):c.226G>A (p.Gly76Arg)
NM_000091.5(COL4A3):c.2294G>A (p.Gly765Glu)
NM_000091.5(COL4A3):c.2375-2A>G rs2071916145
NM_000091.5(COL4A3):c.2470G>A (p.Gly824Arg)
NM_000091.5(COL4A3):c.2504C>G (p.Thr835Arg)
NM_000091.5(COL4A3):c.2657G>A (p.Gly886Asp)
NM_000091.5(COL4A3):c.2881+1G>A rs1559899827
NM_000091.5(COL4A3):c.2961_2978del (p.Ala990_Pro995del)
NM_000091.5(COL4A3):c.2980+1G>A
NM_000091.5(COL4A3):c.3283G>A (p.Gly1095Arg)
NM_000091.5(COL4A3):c.3312AAGTCCTGG[1] (p.1105SPG[1]) rs756539994
NM_000091.5(COL4A3):c.3592G>A (p.Gly1198Ser) rs920061910
NM_000091.5(COL4A3):c.3655G>T (p.Gly1219Cys)
NM_000091.5(COL4A3):c.3683G>A (p.Gly1228Asp)
NM_000091.5(COL4A3):c.3964G>T (p.Gly1322Cys)
NM_000091.5(COL4A3):c.4226_4227delinsAA (p.Gly1409Glu)
NM_000091.5(COL4A3):c.4253-1G>A
NM_000091.5(COL4A3):c.4349G>A (p.Arg1450Gln)
NM_000091.5(COL4A3):c.4547G>A (p.Arg1516Gln)
NM_000091.5(COL4A3):c.610-1G>C
NM_000091.5(COL4A3):c.619G>C (p.Gly207Arg)
NM_000091.5(COL4A3):c.637G>C (p.Gly213Arg)
NM_000091.5(COL4A3):c.663_664del (p.Arg221fs) rs1469479748
NM_000091.5(COL4A3):c.680G>A (p.Gly227Glu) rs1574698507
NM_000091.5(COL4A3):c.689G>A (p.Gly230Asp)
NM_000092.4(COL4A4):c.1321_1369+3del rs1553676221
NM_000092.5(COL4A4):c.1030G>A (p.Gly344Arg) rs267599231
NM_000092.5(COL4A4):c.1051C>T (p.His351Tyr)
NM_000092.5(COL4A4):c.1108G>A (p.Gly370Arg) rs1559617617
NM_000092.5(COL4A4):c.1259G>A (p.Gly420Glu)
NM_000092.5(COL4A4):c.1267G>A (p.Gly423Ser)
NM_000092.5(COL4A4):c.129C>G (p.Tyr43Ter)
NM_000092.5(COL4A4):c.1323_1340del (p.Pro444_Leu449del) rs773081522
NM_000092.5(COL4A4):c.1327_1344del (p.Pro444_Leu449del) rs1203564054
NM_000092.5(COL4A4):c.1442G>T (p.Gly481Val)
NM_000092.5(COL4A4):c.1535G>T (p.Gly512Val)
NM_000092.5(COL4A4):c.1715G>C (p.Gly572Ala) rs1446915781
NM_000092.5(COL4A4):c.1716del (p.Pro573fs)
NM_000092.5(COL4A4):c.1723_1729delinsCCCAT (p.Gly575fs)
NM_000092.5(COL4A4):c.1979G>A (p.Gly660Asp)
NM_000092.5(COL4A4):c.204_212del (p.67PGP[1]) rs764884579
NM_000092.5(COL4A4):c.2084G>A (p.Gly695Asp) rs1553644402
NM_000092.5(COL4A4):c.2279dup (p.Asp761fs) rs1553643669
NM_000092.5(COL4A4):c.2377del (p.Ala793fs) rs1976320157
NM_000092.5(COL4A4):c.2437G>A (p.Gly813Arg)
NM_000092.5(COL4A4):c.2447G>A (p.Gly816Glu)
NM_000092.5(COL4A4):c.2545G>A (p.Gly849Ser)
NM_000092.5(COL4A4):c.2628_2654dup (p.Arg877_Gly885dup) rs1553641597
NM_000092.5(COL4A4):c.2716+5G>C
NM_000092.5(COL4A4):c.3052G>C (p.Gly1018Arg)
NM_000092.5(COL4A4):c.3098G>A (p.Gly1033Asp)
NM_000092.5(COL4A4):c.3213_3214+3del
NM_000092.5(COL4A4):c.3289+1G>A
NM_000092.5(COL4A4):c.3398-1G>C
NM_000092.5(COL4A4):c.3497G>A (p.Gly1166Glu)
NM_000092.5(COL4A4):c.3697G>C (p.Gly1233Arg)
NM_000092.5(COL4A4):c.3715G>A (p.Gly1239Arg)
NM_000092.5(COL4A4):c.3743del (p.Gly1248fs)
NM_000092.5(COL4A4):c.3817G>T (p.Gly1273Ter)
NM_000092.5(COL4A4):c.3967C>T (p.Gln1323Ter) rs1489351299
NM_000092.5(COL4A4):c.4027G>A (p.Gly1343Arg)
NM_000092.5(COL4A4):c.4249_4250del (p.Arg1417fs)
NM_000092.5(COL4A4):c.4315G>A (p.Gly1439Ser)
NM_000092.5(COL4A4):c.4333+2T>G
NM_000092.5(COL4A4):c.4333+5A>C
NM_000092.5(COL4A4):c.4334-44_4334-6del
NM_000092.5(COL4A4):c.4684del (p.Tyr1562fs) rs1962591629
NM_000092.5(COL4A4):c.4705T>G (p.Cys1569Gly)
NM_000092.5(COL4A4):c.4717del (p.Ala1573fs) rs2149720724
NM_000092.5(COL4A4):c.4720C>T (p.Gln1574Ter) rs2149720690
NM_000092.5(COL4A4):c.4763G>A (p.Cys1588Tyr)
NM_000092.5(COL4A4):c.4768C>T (p.Gln1590Ter) rs1559395617
NM_000092.5(COL4A4):c.4953G>A (p.Trp1651Ter) rs1408907127
NM_000092.5(COL4A4):c.558+1del
NM_000092.5(COL4A4):c.74C>G (p.Ser25Ter)
NM_000092.5(COL4A4):c.818G>A (p.Gly273Asp)
NM_000092.5(COL4A4):c.81_86del (p.27IL[1]) rs771943519
NM_033380.3(COL4A5):c.3773G>T (p.Gly1258Val)
NM_033380.3(COL4A5):c.3898G>A (p.Gly1300Ser) rs2147975020
NM_033380.3(COL4A5):c.4938C>G (p.Tyr1646Ter) rs2068717619

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