ClinVar Miner

List of variants in gene COL4A5 reported as likely pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (1030):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 70
Download table as spreadsheet
HGVS dbSNP
NM_033380.3(COL4A5):c.1033-6A>G rs869025330
NM_033380.3(COL4A5):c.1120G>A (p.Gly374Arg)
NM_033380.3(COL4A5):c.1129G>A (p.Gly377Arg) rs1603286154
NM_033380.3(COL4A5):c.1295G>A (p.Gly432Glu)
NM_033380.3(COL4A5):c.1387G>C (p.Gly463Arg) rs1556410516
NM_033380.3(COL4A5):c.1480G>C (p.Gly494Arg) rs1569493662
NM_033380.3(COL4A5):c.1588-10C>G rs1603290097
NM_033380.3(COL4A5):c.1690G>C (p.Gly564Arg) rs281874674
NM_033380.3(COL4A5):c.1708G>A (p.Gly570Arg) rs1603290169
NM_033380.3(COL4A5):c.1751_1756del (p.Pro584_Gly585del) rs1603290199
NM_033380.3(COL4A5):c.1771G>A (p.Gly591Arg) rs1569494061
NM_033380.3(COL4A5):c.1799G>T (p.Gly600Val)
NM_033380.3(COL4A5):c.1997G>A (p.Gly666Asp) rs104886153
NM_033380.3(COL4A5):c.2005G>T (p.Gly669Cys) rs281874684
NM_033380.3(COL4A5):c.2116A>G (p.Ile706Val)
NM_033380.3(COL4A5):c.2183G>A (p.Gly728Glu) rs1603292422
NM_033380.3(COL4A5):c.2332G>C (p.Gly778Arg) rs104886174
NM_033380.3(COL4A5):c.2378G>A (p.Gly793Glu) rs1603293624
NM_033380.3(COL4A5):c.2378G>C (p.Gly793Ala) rs1603293624
NM_033380.3(COL4A5):c.2464G>A (p.Gly822Arg)
NM_033380.3(COL4A5):c.2465G>T (p.Gly822Val) rs1291655627
NM_033380.3(COL4A5):c.2537G>A (p.Gly846Glu) rs1569497690
NM_033380.3(COL4A5):c.2579G>A (p.Gly860Asp) rs1556419831
NM_033380.3(COL4A5):c.2587G>A (p.Gly863Ser) rs1603297305
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg) rs104886189
NM_033380.3(COL4A5):c.2615G>C (p.Gly872Ala) rs1556419869
NM_033380.3(COL4A5):c.2642G>T (p.Gly881Val) rs1556419895
NM_033380.3(COL4A5):c.2686G>A (p.Gly896Ser) rs1556420349
NM_033380.3(COL4A5):c.2695G>A (p.Gly899Ser) rs1556420358
NM_033380.3(COL4A5):c.2722G>A (p.Gly908Arg) rs281874703
NM_033380.3(COL4A5):c.2927G>A (p.Gly976Glu) rs1603298378
NM_033380.3(COL4A5):c.2963G>A (p.Gly988Glu) rs1569498623
NM_033380.3(COL4A5):c.3052G>T (p.Gly1018Cys) rs1603298869
NM_033380.3(COL4A5):c.3152G>A (p.Gly1051Glu) rs1603298993
NM_033380.3(COL4A5):c.3197G>A (p.Gly1066Asp) rs104886221
NM_033380.3(COL4A5):c.3293G>A (p.Gly1098Asp) rs1603306716
NM_033380.3(COL4A5):c.3304del (p.Asp1102fs) rs1569504068
NM_033380.3(COL4A5):c.3347G>T (p.Gly1116Val) rs281874713
NM_033380.3(COL4A5):c.3437G>A (p.Gly1146Glu)
NM_033380.3(COL4A5):c.3473G>A (p.Gly1158Glu)
NM_033380.3(COL4A5):c.3509G>A (p.Gly1170Asp) rs1060499710
NM_033380.3(COL4A5):c.3623G>A (p.Gly1208Glu)
NM_033380.3(COL4A5):c.3942G>A (p.Gln1314=) rs281874724
NM_033380.3(COL4A5):c.3978del (p.Gly1327fs) rs1131692246
NM_033380.3(COL4A5):c.412G>T (p.Gly138Cys) rs767619131
NM_033380.3(COL4A5):c.421G>A (p.Gly141Ser) rs1556403112
NM_033380.3(COL4A5):c.4222del (p.Thr1408fs)
NM_033380.3(COL4A5):c.4389dup (p.Val1464fs) rs1569508360
NM_033380.3(COL4A5):c.4475G>T (p.Gly1492Val) rs104886282
NM_033380.3(COL4A5):c.4529-345A>G rs1569508899
NM_033380.3(COL4A5):c.4618del (p.Asp1540fs) rs1603326561
NM_033380.3(COL4A5):c.4709G>T (p.Cys1570Phe) rs104886287
NM_033380.3(COL4A5):c.4804G>A (p.Gly1602Ser) rs104886424
NM_033380.3(COL4A5):c.4811C>T (p.Ser1604Phe) rs1569509257
NM_033380.3(COL4A5):c.4914T>G (p.Cys1638Trp) rs1569509336
NM_033380.3(COL4A5):c.547G>A (p.Gly183Ser) rs1556404985
NM_033380.3(COL4A5):c.574G>A (p.Gly192Arg) rs104886060
NM_033380.3(COL4A5):c.584G>T (p.Gly195Val) rs104886061
NM_033380.3(COL4A5):c.619G>A (p.Gly207Ser) rs1569490379
NM_033380.3(COL4A5):c.638G>T (p.Gly213Val) rs104886066
NM_033380.3(COL4A5):c.645+1G>T rs1603282474
NM_033380.3(COL4A5):c.674C>T (p.Pro225Leu) rs1196820381
NM_033380.3(COL4A5):c.689G>T (p.Gly230Val)
NM_033380.3(COL4A5):c.707G>A (p.Gly236Asp) rs1556406001
NM_033380.3(COL4A5):c.799G>A (p.Gly267Arg) rs1603283567
NM_033380.3(COL4A5):c.81+4A>C rs1569469484
NM_033380.3(COL4A5):c.865G>A (p.Gly289Ser)
NM_033380.3(COL4A5):c.875G>A (p.Gly292Glu) rs104886078
NM_033380.3(COL4A5):c.884G>A (p.Gly295Asp) rs104886079
NM_033380.3(COL4A5):c.929G>T (p.Gly310Val) rs1556407064

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.