List of variants in gene COL4A5 reported as likely pathogenic by CeGaT Center for Human Genetics Tuebingen

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_033380.3(COL4A5):c.412G>A (p.Gly138Ser)	rs767619131	0.00001
NM_033380.3(COL4A5):c.1762G>A (p.Gly588Ser)
NM_033380.3(COL4A5):c.1904G>A (p.Gly635Asp)	rs281874683
NM_033380.3(COL4A5):c.2315G>T (p.Gly772Val)	rs104886173
NM_033380.3(COL4A5):c.2466ACCACCAGG[1] (p.823PPG[1])	rs104886356
NM_033380.3(COL4A5):c.4475G>T (p.Gly1492Val)	rs104886282
NM_033380.3(COL4A5):c.835-2A>G	rs1556406859
NM_033380.3(COL4A5):c.920G>A (p.Gly307Asp)	rs104886082

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