List of variants in gene COL4A4 reported as 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: 10

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HGVS	dbSNP	gnomAD frequency
NM_000092.5(COL4A4):c.4129C>T (p.Arg1377Ter)	rs121912861	0.00001
NM_000092.5(COL4A4):c.1623+1G>A	rs1559590037
NM_000092.5(COL4A4):c.1889del (p.Pro630fs)	rs757688183
NM_000092.5(COL4A4):c.2279dup (p.Asp761fs)	rs1553643669
NM_000092.5(COL4A4):c.2826_2827insAC (p.Leu943fs)	rs1559508134
NM_000092.5(COL4A4):c.3109_3110del (p.Leu1037fs)	rs1559500363
NM_000092.5(COL4A4):c.3861_3862insTC (p.Arg1288fs)	rs1559450594
NM_000092.5(COL4A4):c.4082-1G>T	rs1559438651
NM_000092.5(COL4A4):c.4621_4624dup (p.Trp1542fs)	rs1559396675
NM_000092.5(COL4A4):c.4768C>T (p.Gln1590Ter)	rs1559395617

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