List of variants in gene COL4A5 reported as likely pathogenic by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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: 9

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HGVS	dbSNP	gnomAD frequency
NM_033380.3(COL4A5):c.2696G>A (p.Gly899Asp)	rs281874702
NM_033380.3(COL4A5):c.2821G>C (p.Gly941Arg)	rs104886196
NM_033380.3(COL4A5):c.3257G>T (p.Gly1086Val)	rs104886232
NM_033380.3(COL4A5):c.4618del (p.Asp1540fs)	rs1603326561
NM_033380.3(COL4A5):c.4892_4895del (p.Arg1631fs)
NM_033380.3(COL4A5):c.619G>C (p.Gly207Arg)	rs1569490379
NM_033380.3(COL4A5):c.800G>T (p.Gly267Val)	rs1556406775
NM_033380.3(COL4A5):c.875G>A (p.Gly292Glu)	rs104886078
NM_033380.3(COL4A5):c.902G>A (p.Gly301Asp)	rs1569491075

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