ClinVar Miner

List of variants studied for Alport syndrome by Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 152
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HGVS dbSNP
NM_000091.4(COL4A3):c.1022G>A (p.Arg341His) rs200738124
NM_000091.4(COL4A3):c.1594G>T (p.Gly532Cys)
NM_000091.4(COL4A3):c.1855G>A (p.Gly619Arg) rs773515249
NM_000091.4(COL4A3):c.1909G>A (p.Gly637Arg) rs761686437
NM_000091.4(COL4A3):c.1978C>A (p.Pro660Thr) rs773674552
NM_000091.4(COL4A3):c.2002G>C (p.Gly668Arg) rs1559890352
NM_000091.4(COL4A3):c.2083G>A (p.Gly695Arg) rs200287952
NM_000091.4(COL4A3):c.2115T>A (p.Pro705=) rs201419174
NM_000091.4(COL4A3):c.2162del (p.Gly721fs)
NM_000091.4(COL4A3):c.221C>T (p.Pro74Leu) rs373975901
NM_000091.4(COL4A3):c.2284G>C (p.Gly762Arg) rs983885088
NM_000091.4(COL4A3):c.2374+9dup rs1553759691
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.2684G>A (p.Gly895Asp) rs1553760558
NM_000091.4(COL4A3):c.3109C>T (p.Arg1037Ter) rs766900945
NM_000091.4(COL4A3):c.3200C>G (p.Pro1067Arg) rs55849096
NM_000091.4(COL4A3):c.3230G>A (p.Gly1077Asp) rs1559909384
NM_000091.4(COL4A3):c.3240_3243AAAG[1] (p.Lys1082fs) rs1057516204
NM_000091.4(COL4A3):c.3266G>A (p.Gly1089Asp)
NM_000091.4(COL4A3):c.3416C>T (p.Pro1139Leu) rs1057516186
NM_000091.4(COL4A3):c.343G>A (p.Gly115Arg) rs202147112
NM_000091.4(COL4A3):c.3546_3548dup (p.Gly1183dup) rs1175052474
NM_000091.4(COL4A3):c.3575G>A (p.Gly1192Glu)
NM_000091.4(COL4A3):c.3580del (p.Arg1194fs)
NM_000091.4(COL4A3):c.361G>A (p.Gly121Ser) rs778886174
NM_000091.4(COL4A3):c.3629G>A (p.Gly1210Glu)
NM_000091.4(COL4A3):c.3790A>G (p.Ile1264Val) rs1553764410
NM_000091.4(COL4A3):c.3813del (p.Ser1272fs) rs1559914770
NM_000091.4(COL4A3):c.4019G>A (p.Gly1340Glu) rs748901402
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.4803del (p.Gly1602fs) rs760846085
NM_000091.4(COL4A3):c.4882T>G (p.Ser1628Ala) rs773905198
NM_000091.4(COL4A3):c.5010_*14del (p.His1670_Ter1671delinsXaa) rs765655100
NM_000091.4(COL4A3):c.725G>A (p.Gly242Glu)
NM_000091.4(COL4A3):c.765G>A (p.Thr255=) rs869025328
NM_000091.4(COL4A3):c.898G>A (p.Gly300Arg)
NM_000091.4:c.1900G>A;c.1927G>A
NM_000092.4(COL4A4):c.1030-1G>C rs1559620132
NM_000092.4(COL4A4):c.1221_1237del (p.Gly408fs) rs1559606445
NM_000092.4(COL4A4):c.1221del (p.Pro409fs)
NM_000092.4(COL4A4):c.1320_1369+2del rs1553676221
NM_000092.4(COL4A4):c.1379G>A (p.Cys460Tyr) rs753659852
NM_000092.4(COL4A4):c.1389del (p.Asn464fs)
NM_000092.4(COL4A4):c.1424G>T (p.Gly475Val) rs1559594442
NM_000092.4(COL4A4):c.1820C>T (p.Ala607Val) rs373916569
NM_000092.4(COL4A4):c.1828G>A (p.Gly610Ser) rs1559563525
NM_000092.4(COL4A4):c.1907G>A (p.Gly636Asp) rs1559563141
NM_000092.4(COL4A4):c.190C>T (p.Arg64Trp) rs200668675
NM_000092.4(COL4A4):c.2171G>A (p.Arg724His) rs200146486
NM_000092.4(COL4A4):c.2171del (p.Arg724fs)
NM_000092.4(COL4A4):c.2549C>T (p.Ala850Val) rs758199486
NM_000092.4(COL4A4):c.2662G>A (p.Gly888Arg) rs1363277825
NM_000092.4(COL4A4):c.2756A>G (p.Glu919Gly) rs753208968
NM_000092.4(COL4A4):c.2969-1G>C rs1553639043
NM_000092.4(COL4A4):c.3089G>A (p.Gly1030Asp) rs772699709
NM_000092.4(COL4A4):c.3103A>G (p.Thr1035Ala) rs1553638898
NM_000092.4(COL4A4):c.3574_3577+8del rs1553627655
NM_000092.4(COL4A4):c.3638G>T (p.Gly1213Val) rs1559455617
NM_000092.4(COL4A4):c.3829C>T (p.Pro1277Ser) rs1037084154
NM_000092.4(COL4A4):c.3834dup (p.Gly1279fs) rs1553625684
NM_000092.4(COL4A4):c.3875G>A (p.Gly1292Asp) rs971779449
NM_000092.4(COL4A4):c.3878A>G (p.Asp1293Gly) rs1559450506
NM_000092.4(COL4A4):c.4063G>A (p.Gly1355Arg) rs1553624029
NM_000092.4(COL4A4):c.4090G>T (p.Gly1364Cys) rs1553622675
NM_000092.4(COL4A4):c.4129C>T (p.Arg1377Ter) rs121912861
NM_000092.4(COL4A4):c.4333+3A>G rs1455105815
NM_000092.4(COL4A4):c.4417C>A (p.Gln1473Lys) rs766771700
NM_000092.4(COL4A4):c.4440C>G (p.Cys1480Trp)
NM_000092.4(COL4A4):c.4460_4463dup (p.Trp1488fs)
NM_000092.4(COL4A4):c.446G>T (p.Gly149Val) rs374815903
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.4694_4713del (p.Arg1565fs) rs1553612433
NM_000092.4(COL4A4):c.4718C>T (p.Ala1573Val)
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.481G>C (p.Gly161Arg)
NM_000092.4(COL4A4):c.4820del (p.Ala1607fs) rs1559394354
NM_000092.4(COL4A4):c.4858G>A (p.Gly1620Ser)
NM_000092.4(COL4A4):c.4948T>C (p.Phe1650Leu) rs1553611876
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.5044C>T (p.Arg1682Trp) rs766550724
NM_000092.4(COL4A4):c.594+1G>A rs1553690565
NM_000092.4(COL4A4):c.596G>T (p.Gly199Val) rs1559646395
NM_000092.4(COL4A4):c.665C>T (p.Pro222Leu) rs773533313
NM_000092.4(COL4A4):c.673C>A (p.Pro225Thr)
NM_000092.4(COL4A4):c.693G>A (p.Lys231=) rs1559644463
NM_000092.4(COL4A4):c.735G>A (p.Pro245=) rs923865420
NM_000092.4(COL4A4):c.755G>T (p.Gly252Val)
NM_000092.4(COL4A4):c.81_86del (p.27_28IL[1]) rs771943519
NM_000092.4(COL4A4):c.941G>T (p.Gly314Val) rs1005389790
NM_000495.5(COL4A5):c.1132_1138del (p.Ile378fs) rs1569492147
NM_000495.5(COL4A5):c.1387G>C (p.Gly463Arg) rs1556410516
NM_000495.5(COL4A5):c.1683A>T (p.Gly561=) rs1569494020
NM_000495.5(COL4A5):c.1708G>A (p.Gly570Arg)
NM_000495.5(COL4A5):c.1771G>A (p.Gly591Arg) rs1569494061
NM_000495.5(COL4A5):c.1843G>A (p.Gly615Arg) rs1569494304
NM_000495.5(COL4A5):c.1969C>A (p.Gln657Lys) rs1569494866
NM_000495.5(COL4A5):c.2048del (p.Pro683fs) rs1060499694
NM_000495.5(COL4A5):c.2165G>A (p.Gly722Glu) rs104886163
NM_000495.5(COL4A5):c.2183G>A (p.Gly728Glu)
NM_000495.5(COL4A5):c.236A>T (p.Asp79Val) rs775277548
NM_000495.5(COL4A5):c.2537G>A (p.Gly846Glu) rs1569497690
NM_000495.5(COL4A5):c.2579G>A (p.Gly860Asp) rs1556419831
NM_000495.5(COL4A5):c.2587G>A (p.Gly863Ser)
NM_000495.5(COL4A5):c.2615G>C (p.Gly872Ala) rs1556419869
NM_000495.5(COL4A5):c.2642G>T (p.Gly881Val) rs1556419895
NM_000495.5(COL4A5):c.2686G>A (p.Gly896Ser) rs1556420349
NM_000495.5(COL4A5):c.2695G>A (p.Gly899Ser) rs1556420358
NM_000495.5(COL4A5):c.2766del (p.Gly923fs) rs886039890
NM_000495.5(COL4A5):c.2963G>A (p.Gly988Glu) rs1569498623
NM_000495.5(COL4A5):c.3148C>G (p.Pro1050Ala) rs143945573
NM_000495.5(COL4A5):c.3247-1G>A rs1569504056
NM_000495.5(COL4A5):c.3314T>A (p.Leu1105Ter) rs1556439394
NM_000495.5(COL4A5):c.3319G>T (p.Gly1107Ter)
NM_000495.5(COL4A5):c.3455-8T>G rs1569505503
NM_000495.5(COL4A5):c.3475C>T (p.Gln1159Ter)
NM_000495.5(COL4A5):c.3481G>C (p.Gly1161Arg)
NM_000495.5(COL4A5):c.3482G>A (p.Gly1161Glu)
NM_000495.5(COL4A5):c.3487_3488delinsG (p.Pro1163fs) rs1057516187
NM_000495.5(COL4A5):c.3508G>A (p.Gly1170Ser) rs104886237
NM_000495.5(COL4A5):c.3509G>A (p.Gly1170Asp) rs1060499710
NM_000495.5(COL4A5):c.3604+2T>A rs1569505613
NM_000495.5(COL4A5):c.3801_3863del (p.Pro1268_Gly1288del) rs1556451235
NM_000495.5(COL4A5):c.3924G>A (p.Gln1308=) rs281874724
NM_000495.5(COL4A5):c.4228C>T (p.Arg1410Cys) rs104886270
NM_000495.5(COL4A5):c.4396C>T (p.Arg1466Cys)
NM_000495.5(COL4A5):c.4511-345A>G rs1569508899
NM_000495.5(COL4A5):c.4568T>C (p.Ile1523Thr) rs749580257
NM_000495.5(COL4A5):c.4688+4A>C rs1569508999
NM_000495.5(COL4A5):c.4688G>A (p.Arg1563Gln) rs281874743
NM_000495.5(COL4A5):c.4745del (p.Gln1582fs) rs1057516203
NM_000495.5(COL4A5):c.4793C>T (p.Ser1598Phe) rs1569509257
NM_000495.5(COL4A5):c.4877C>T (p.Ser1626Leu) rs1556463567
NM_000495.5(COL4A5):c.4882_4885del (p.Pro1628fs) rs886039886
NM_000495.5(COL4A5):c.488T>C (p.Met163Thr) rs142503631
NM_000495.5(COL4A5):c.5030G>A (p.Arg1677Gln) rs104886308
NM_000495.5(COL4A5):c.547G>A (p.Gly183Ser) rs1556404985
NM_000495.5(COL4A5):c.567_568TA[1] (p.Ile190fs) rs1556405010
NM_000495.5(COL4A5):c.584G>T (p.Gly195Val) rs104886061
NM_000495.5(COL4A5):c.619G>A (p.Gly207Ser) rs1569490379
NM_000495.5(COL4A5):c.638G>T (p.Gly213Val) rs104886066
NM_000495.5(COL4A5):c.687del (p.Gly230fs) rs1556405926
NM_000495.5(COL4A5):c.707G>A (p.Gly236Asp) rs1556406001
NM_000495.5(COL4A5):c.834+2T>G rs1569490932
NM_000495.5(COL4A5):c.835-2A>G rs1556406859
NM_000495.5(COL4A5):c.875del (p.Gly292fs) rs281874768
NM_000495.5(COL4A5):c.929G>T (p.Gly310Val) rs1556407064

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