List of variants in gene COL4A5 reported as pathogenic by Precision Medicine Center, Zhengzhou 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: 15

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HGVS	dbSNP	gnomAD frequency
NM_033380.3(COL4A5):c.1033-2A>G	rs2147787964
NM_033380.3(COL4A5):c.1480G>T (p.Gly494Cys)	rs1569493662
NM_033380.3(COL4A5):c.1871G>T (p.Gly624Val)	rs104886142
NM_033380.3(COL4A5):c.2146G>A (p.Gly716Ser)	rs104886161
NM_033380.3(COL4A5):c.322-1G>T	rs104886375
NM_033380.3(COL4A5):c.3659G>A (p.Gly1220Asp)	rs104886251
NM_033380.3(COL4A5):c.3670G>T (p.Glu1224Ter)	rs1290001124
NM_033380.3(COL4A5):c.439-1G>A	rs2147754967
NM_033380.3(COL4A5):c.4528G>C (p.Gly1510Arg)	rs2147991725
NM_033380.3(COL4A5):c.4706+2T>C	rs2147998807
NM_033380.3(COL4A5):c.4787G>A (p.Trp1596Ter)	rs2148001657
NM_033380.3(COL4A5):c.4962G>A (p.Trp1654Ter)	rs2068718016
NM_033380.3(COL4A5):c.4978_4979insAAAA (p.Val1660fs)	rs2148002538
NM_033380.3(COL4A5):c.584G>A (p.Gly195Asp)	rs104886061
NM_033380.3(COL4A5):c.687+1G>A	rs104886440

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