List of variants in gene COL4A5 reported as likely pathogenic by GeneDx

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_033380.3(COL4A5):c.2998G>A (p.Gly1000Arg)	rs2067110688	0.00003
NM_033380.3(COL4A5):c.1424-20T>A	rs281874668
NM_033380.3(COL4A5):c.1779+1G>A	rs104886337
NM_033380.3(COL4A5):c.2958_2975del (p.Asp989_Gly994del)	rs1556421106
NM_033380.3(COL4A5):c.3073_3081del (p.Leu1025_Gly1027del)	rs2524420389
NM_033380.3(COL4A5):c.3490G>T (p.Gly1164Cys)	rs1057518125
NM_033380.3(COL4A5):c.3659G>T (p.Gly1220Val)	rs104886251
NM_033380.3(COL4A5):c.384+1G>A	rs1569488437
NM_033380.3(COL4A5):c.4837dup (p.Ala1613fs)	rs1569509307
NM_033380.3(COL4A5):c.687+5G>A	rs1556405930

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