List of variants in gene COL4A4 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: 16

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HGVS	dbSNP	gnomAD frequency
NM_000092.5(COL4A4):c.5045G>A (p.Arg1682Gln)	rs368404711	0.00010
NM_000092.5(COL4A4):c.1223G>A (p.Gly408Glu)	rs1026613471	0.00002
NM_000092.5(COL4A4):c.2092G>A (p.Gly698Arg)	rs1241404192	0.00001
NM_000092.5(COL4A4):c.3734G>T (p.Gly1245Val)	rs1189502123	0.00001
NM_000092.5(COL4A4):c.4122del (p.Cys1375fs)	rs1162601696	0.00001
NM_000092.5(COL4A4):c.489+1G>A	rs1040287646	0.00001
NM_000092.5(COL4A4):c.1108G>A (p.Gly370Arg)	rs1559617617
NM_000092.5(COL4A4):c.1423G>T (p.Gly475Cys)	rs1371408968
NM_000092.5(COL4A4):c.2528G>A (p.Gly843Glu)	rs1559515185
NM_000092.5(COL4A4):c.2545+2T>G	rs1559515075
NM_000092.5(COL4A4):c.282_283del (p.Asp96fs)	rs1559677146
NM_000092.5(COL4A4):c.2870G>T (p.Gly957Val)	rs1559503562
NM_000092.5(COL4A4):c.4175G>C (p.Gly1392Ala)	rs1559429663
NM_000092.5(COL4A4):c.4311_4315dup (p.Gly1439fs)	rs1559406956
NM_000092.5(COL4A4):c.4429G>T (p.Glu1477Ter)	rs1367906290
NM_000092.5(COL4A4):c.4760del (p.Pro1587fs)	rs1206142672

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