ClinVar Miner

List of variants reported as pathogenic 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: 50
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HGVS dbSNP
NM_000091.4(COL4A3):c.1594G>T (p.Gly532Cys)
NM_000091.4(COL4A3):c.2083G>A (p.Gly695Arg) rs200287952
NM_000091.4(COL4A3):c.2162del (p.Gly721fs)
NM_000091.4(COL4A3):c.3109C>T (p.Arg1037Ter) rs766900945
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.3575G>A (p.Gly1192Glu)
NM_000091.4(COL4A3):c.3580del (p.Arg1194fs)
NM_000091.4(COL4A3):c.3813del (p.Ser1272fs) rs1559914770
NM_000091.4(COL4A3):c.443G>T (p.Gly148Val) rs775373641
NM_000091.4(COL4A3):c.4803del (p.Gly1602fs) rs760846085
NM_000091.4(COL4A3):c.765G>A (p.Thr255=) rs869025328
NM_000091.4(COL4A3):c.898G>A (p.Gly300Arg)
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.1389del (p.Asn464fs)
NM_000092.4(COL4A4):c.2171del (p.Arg724fs)
NM_000092.4(COL4A4):c.2969-1G>C rs1553639043
NM_000092.4(COL4A4):c.3834dup (p.Gly1279fs) rs1553625684
NM_000092.4(COL4A4):c.4129C>T (p.Arg1377Ter) rs121912861
NM_000092.4(COL4A4):c.4460_4463dup (p.Trp1488fs)
NM_000092.4(COL4A4):c.4694_4713del (p.Arg1565fs) rs1553612433
NM_000092.4(COL4A4):c.4820del (p.Ala1607fs) rs1559394354
NM_000092.4(COL4A4):c.594+1G>A rs1553690565
NM_000495.5(COL4A5):c.1132_1138del (p.Ile378fs) rs1569492147
NM_000495.5(COL4A5):c.1843G>A (p.Gly615Arg) rs1569494304
NM_000495.5(COL4A5):c.2048del (p.Pro683fs) rs1060499694
NM_000495.5(COL4A5):c.2165G>A (p.Gly722Glu) rs104886163
NM_000495.5(COL4A5):c.2766del (p.Gly923fs) rs886039890
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.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.3604+2T>A rs1569505613
NM_000495.5(COL4A5):c.3801_3863del (p.Pro1268_Gly1288del) rs1556451235
NM_000495.5(COL4A5):c.4688G>A (p.Arg1563Gln) rs281874743
NM_000495.5(COL4A5):c.4745del (p.Gln1582fs) rs1057516203
NM_000495.5(COL4A5):c.4882_4885del (p.Pro1628fs) rs886039886
NM_000495.5(COL4A5):c.5030G>A (p.Arg1677Gln) rs104886308
NM_000495.5(COL4A5):c.567_568TA[1] (p.Ile190fs) rs1556405010
NM_000495.5(COL4A5):c.687del (p.Gly230fs) rs1556405926
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

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