List of variants in gene COL4A5 reported as likely pathogenic by Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

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: 5

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HGVS	dbSNP	gnomAD frequency
NM_033380.3(COL4A5):c.1120G>A (p.Gly374Arg)	rs2066342176
NM_033380.3(COL4A5):c.2294del (p.Pro765fs)	rs2066735315
NM_033380.3(COL4A5):c.4217-1G>A	rs587776402
NM_033380.3(COL4A5):c.60G>A (p.Trp20Ter)
NM_033380.3(COL4A5):c.938G>T (p.Gly313Val)	rs2147781020

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