List of variants in gene COL4A4 reported as likely pathogenic by Institute of Human Genetics, Cologne 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: 7

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HGVS	dbSNP	gnomAD frequency
NM_000092.5(COL4A4):c.2312G>A (p.Gly771Glu)	rs781660254	0.00001
NM_000092.5(COL4A4):c.1240G>T (p.Gly414Cys)	rs373150214
NM_000092.5(COL4A4):c.1751G>A (p.Gly584Glu)	rs2150506036
NM_000092.5(COL4A4):c.3101C>A (p.Ser1034Ter)	rs1576129421
NM_000092.5(COL4A4):c.3647G>A (p.Gly1216Glu)	rs2149981074
NM_000092.5(COL4A4):c.595G>T (p.Gly199Ter)	rs750345987
NM_000092.5(COL4A4):c.903dup (p.Gly302fs)	rs1559628183

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