List of variants in gene combination COL4A3, MFF-DT reported as likely pathogenic by Gharavi Laboratory, Columbia University

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 28

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000091.5(COL4A3):c.1096G>A (p.Gly366Arg)	rs539765620	0.00005
NM_000091.5(COL4A3):c.172G>A (p.Gly58Ser)	rs184730597	0.00004
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg)	rs772708743	0.00002
NM_000091.5(COL4A3):c.1855G>A (p.Gly619Arg)	rs773515249	0.00001
NM_000091.5(COL4A3):c.1927G>A (p.Gly643Ser)	rs778034451	0.00001
NM_000091.5(COL4A3):c.2452G>A (p.Gly818Arg)	rs868002181	0.00001
NM_000091.5(COL4A3):c.2962G>A (p.Gly988Arg)	rs769683665	0.00001
NM_000091.5(COL4A3):c.3499G>A (p.Gly1167Arg)	rs267606745	0.00001
NM_000091.5(COL4A3):c.352G>A (p.Gly118Arg)	rs1293137291	0.00001
NM_000091.5(COL4A3):c.3820G>A (p.Gly1274Ser)	rs1559914789	0.00001
NM_000091.5(COL4A3):c.1006G>T (p.Gly336Cys)	rs1559873550
NM_000091.5(COL4A3):c.1087G>A (p.Gly363Arg)	rs1559875465
NM_000091.5(COL4A3):c.1141G>C (p.Gly381Arg)	rs1559876538
NM_000091.5(COL4A3):c.1201G>A (p.Gly401Arg)	rs1559878824
NM_000091.5(COL4A3):c.1354G>A (p.Gly452Arg)	rs772958162
NM_000091.5(COL4A3):c.190G>C (p.Gly64Arg)	rs917643323
NM_000091.5(COL4A3):c.2647G>A (p.Gly883Arg)	rs1559897288
NM_000091.5(COL4A3):c.2810G>A (p.Gly937Glu)	rs1559899600
NM_000091.5(COL4A3):c.3070+2T>C	rs1173685095
NM_000091.5(COL4A3):c.3142G>C (p.Gly1048Arg)	rs1559906448
NM_000091.5(COL4A3):c.3212G>A (p.Gly1071Glu)	rs765128550
NM_000091.5(COL4A3):c.3275G>T (p.Gly1092Val)	rs1559909513
NM_000091.5(COL4A3):c.3546_3548dup (p.Gly1183dup)	rs1175052474
NM_000091.5(COL4A3):c.3592G>A (p.Gly1198Ser)	rs920061910
NM_000091.5(COL4A3):c.4010G>A (p.Gly1337Glu)	rs779855573
NM_000091.5(COL4A3):c.872G>A (p.Gly291Glu)	rs1425230568
NM_000091.5(COL4A3):c.88G>C (p.Gly30Arg)	rs1559854632
NM_000091.5(COL4A3):c.953G>A (p.Gly318Asp)	rs1559872489

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.