List of variants in gene COL4A5 reported as likely pathogenic by Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München

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: 14

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HGVS	dbSNP	gnomAD frequency
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp)	rs104886142	0.00005
NM_033380.3(COL4A5):c.1751_1756del (p.Pro584_Gly585del)	rs1603290199
NM_033380.3(COL4A5):c.2104G>C (p.Gly702Arg)
NM_033380.3(COL4A5):c.2378G>A (p.Gly793Glu)	rs1603293624
NM_033380.3(COL4A5):c.2465G>T (p.Gly822Val)	rs1291655627
NM_033380.3(COL4A5):c.3008G>T (p.Gly1003Val)
NM_033380.3(COL4A5):c.3499G>A (p.Gly1167Ser)	rs104886236
NM_033380.3(COL4A5):c.4808A>G (p.Tyr1603Cys)	rs104886298
NM_033380.3(COL4A5):c.538G>A (p.Gly180Arg)	rs281874755
NM_033380.3(COL4A5):c.645+1G>T	rs1603282474
NM_033380.3(COL4A5):c.817G>A (p.Gly273Arg)
NM_033380.3(COL4A5):c.866G>A (p.Gly289Asp)	rs104886450
NM_033380.3(COL4A5):c.919G>C (p.Gly307Arg)
NM_033380.3(COL4A5):c.956G>T (p.Gly319Val)

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