ClinVar Miner

List of variants reported as pathogenic for autosomal dominant Alport syndrome by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 36
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg) rs200287952 0.00016
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.3109C>T (p.Arg1037Ter) rs766900945 0.00001
NM_000091.5(COL4A3):c.443G>T (p.Gly148Val) rs775373641 0.00001
NM_000091.5(COL4A3):c.765G>A (p.Thr255=) rs869025328 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
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.3013_3038del (p.Pro1005fs) rs1574803208
NM_000091.5(COL4A3):c.3230G>A (p.Gly1077Asp) rs1559909384
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.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.3813del (p.Ser1272fs) rs1559914770
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.192+1_192+2delinsTGATGTA rs1576812577
NM_000092.5(COL4A4):c.2171del (p.Arg724fs) rs1576207007
NM_000092.5(COL4A4):c.2969-1G>C rs1553639043
NM_000092.5(COL4A4):c.3834dup (p.Gly1279fs) rs1553625684
NM_000092.5(COL4A4):c.4460_4463dup (p.Trp1488fs) rs1575714693
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

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.