ClinVar Miner

List of variants reported as pathogenic for autosomal dominant Alport syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 81
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_033380.3(COL4A5):c.2692A>G (p.Met898Val) rs104886192 0.00017
NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg) rs200287952 0.00016
NM_000091.5(COL4A3):c.4441C>T (p.Arg1481Ter) rs121912824 0.00003
NM_000091.5(COL4A3):c.4825C>T (p.Arg1609Ter) rs756231749 0.00003
NM_000091.5(COL4A3):c.391G>T (p.Glu131Ter) rs1346138010 0.00002
NM_000091.5(COL4A3):c.4803del (p.Gly1602fs) rs760846085 0.00002
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg) rs772708743 0.00002
NM_000092.5(COL4A4):c.2878G>A (p.Gly960Arg) rs769783985 0.00002
NM_000091.5(COL4A3):c.1505-2A>C rs1247804051 0.00001
NM_000091.5(COL4A3):c.1594G>T (p.Gly532Cys) rs779575469 0.00001
NM_000091.5(COL4A3):c.1855G>A (p.Gly619Arg) rs773515249 0.00001
NM_000091.5(COL4A3):c.2371C>T (p.Arg791Ter) rs1060499654 0.00001
NM_000091.5(COL4A3):c.3109C>T (p.Arg1037Ter) rs766900945 0.00001
NM_000091.5(COL4A3):c.3499G>A (p.Gly1167Arg) rs267606745 0.00001
NM_000091.5(COL4A3):c.4001G>A (p.Gly1334Glu) rs375290088 0.00001
NM_000091.5(COL4A3):c.4382C>T (p.Pro1461Leu) rs760462252 0.00001
NM_000091.5(COL4A3):c.443G>T (p.Gly148Val) rs775373641 0.00001
NM_000091.5(COL4A3):c.4486C>T (p.Arg1496Ter) rs769863513 0.00001
NM_000091.5(COL4A3):c.765G>A (p.Thr255=) rs869025328 0.00001
NM_000092.5(COL4A4):c.1405G>T (p.Gly469Ter) rs926605269 0.00001
NM_000092.5(COL4A4):c.4129C>T (p.Arg1377Ter) rs121912861 0.00001
NM_000092.5(COL4A4):c.4522G>A (p.Gly1508Ser) rs1003748020 0.00001
NM_000092.5(COL4A4):c.4808T>C (p.Met1603Thr) rs377058706 0.00001
NM_000092.5(COL4A4):c.755G>T (p.Gly252Val) rs760795817 0.00001
NC_000002.12:g.227101910del
NM_000091.5(COL4A3):c.1006G>T (p.Gly336Cys) rs1559873550
NM_000091.5(COL4A3):c.1184G>A (p.Gly395Glu) rs1131691738
NM_000091.5(COL4A3):c.1219G>C (p.Gly407Arg) rs1559878862
NM_000091.5(COL4A3):c.1315G>A (p.Gly439Ser) rs1553755124
NM_000091.5(COL4A3):c.142A>T (p.Lys48Ter) rs1207493576
NM_000091.5(COL4A3):c.1559G>A (p.Gly520Asp) rs1574745989
NM_000091.5(COL4A3):c.2162del (p.Gly721fs) rs1399954090
NM_000091.5(COL4A3):c.2323_2340del (p.772LPG[1]) rs1306992119
NM_000091.5(COL4A3):c.2330G>T (p.Gly777Val) rs2106151987
NM_000091.5(COL4A3):c.2603G>A (p.Gly868Glu) rs2072046668
NM_000091.5(COL4A3):c.2621_2622delinsT (p.Gly874fs) rs1553760257
NM_000091.5(COL4A3):c.2746+1G>T rs1574786225
NM_000091.5(COL4A3):c.2881+1G>A rs1559899827
NM_000091.5(COL4A3):c.2916_2917del (p.Gly973fs) rs1559904445
NM_000091.5(COL4A3):c.2987_2993del (p.Arg996fs) rs2072585319
NM_000091.5(COL4A3):c.3013_3038del (p.Pro1005fs) rs1574803208
NM_000091.5(COL4A3):c.3230G>A (p.Gly1077Asp) rs1559909384
NM_000091.5(COL4A3):c.3244A>T (p.Lys1082Ter) rs2106226493
NM_000091.5(COL4A3):c.3244_3247del (p.Lys1082fs) rs1057516204
NM_000091.5(COL4A3):c.3266G>A (p.Gly1089Asp) rs1574813382
NM_000091.5(COL4A3):c.345del (p.Pro116fs) rs749390823
NM_000091.5(COL4A3):c.3464G>A (p.Gly1155Asp) rs2106235905
NM_000091.5(COL4A3):c.3500G>A (p.Gly1167Glu) rs2106236091
NM_000091.5(COL4A3):c.3546_3548dup (p.Gly1183dup) rs1175052474
NM_000091.5(COL4A3):c.3575G>A (p.Gly1192Glu) rs1574823172
NM_000091.5(COL4A3):c.3580del (p.Arg1194fs) rs1574823188
NM_000091.5(COL4A3):c.3619G>A (p.Gly1207Arg) rs1167411352
NM_000091.5(COL4A3):c.3620G>A (p.Gly1207Glu) rs1553764136
NM_000091.5(COL4A3):c.3813del (p.Ser1272fs) rs1559914770
NM_000091.5(COL4A3):c.40_63del (p.Leu14_Leu21del) rs876657397
NM_000091.5(COL4A3):c.4235G>T (p.Gly1412Val) rs2073446714
NM_000091.5(COL4A3):c.4347_4353del (p.Arg1450fs) rs748026887
NM_000091.5(COL4A3):c.4474A>T (p.Ser1492Cys) rs1057519377
NM_000091.5(COL4A3):c.4546C>T (p.Arg1516Ter) rs759873621
NM_000091.5(COL4A3):c.600_603dup (p.Phe202fs) rs2125924714
NM_000091.5(COL4A3):c.663_664del (p.Arg221fs) rs1469479748
NM_000091.5(COL4A3):c.92_95dup (p.Lys34fs) rs1385106410
NM_000091.5(COL4A3):c.998G>C (p.Gly333Ala) rs1057519376
NM_000092.4(COL4A4):c.1321_1369+3del rs1553676221
NM_000092.5(COL4A4):c.1221_1237del (p.Gly408fs) rs1559606445
NM_000092.5(COL4A4):c.1221del (p.Pro409fs) rs1576457876
NM_000092.5(COL4A4):c.1389del (p.Asn464fs) rs1576428862
NM_000092.5(COL4A4):c.165C>A (p.Cys55Ter) rs768245333
NM_000092.5(COL4A4):c.192+1_192+2delinsTGATGTA rs1576812577
NM_000092.5(COL4A4):c.2171del (p.Arg724fs) rs1576207007
NM_000092.5(COL4A4):c.2628_2654dup (p.Arg877_Gly885dup) rs1553641597
NM_000092.5(COL4A4):c.2969-1G>C rs1553639043
NM_000092.5(COL4A4):c.3834dup (p.Gly1279fs) rs1553625684
NM_000092.5(COL4A4):c.3909del (p.Gly1304fs)
NM_000092.5(COL4A4):c.4460_4463dup (p.Trp1488fs) rs1575714693
NM_000092.5(COL4A4):c.4599T>G (p.Tyr1533Ter) rs369922627
NM_000092.5(COL4A4):c.4628_4631del (p.Leu1543fs) rs1575696646
NM_000092.5(COL4A4):c.4820del (p.Ala1607fs) rs1559394354
NM_000092.5(COL4A4):c.678_682dup (p.Pro228fs) rs1576571835
NM_033380.3(COL4A5):c.1423+1G>T rs104886312
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg) rs104886189

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.