List of variants in gene COL4A4 reported by Medical Genetics, University of Parma

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000092.5(COL4A4):c.2717-5A>T	rs1800519	0.01182
NM_000092.5(COL4A4):c.2630G>A (p.Arg877Gln)	rs150979437	0.00274
NM_000092.5(COL4A4):c.3044G>A (p.Gly1015Glu)	rs764323652	0.00008
NM_000092.5(COL4A4):c.1820C>T (p.Ala607Val)	rs373916569	0.00001
NM_000092.5(COL4A4):c.3581T>C (p.Leu1194Ser)	rs554736387	0.00001
NM_000092.5(COL4A4):c.1192_1195dup (p.Ala399fs)	rs2060340440
NM_000092.5(COL4A4):c.1580del (p.Gly527fs)	rs2059732983
NM_000092.5(COL4A4):c.2940dup (p.Gly981fs)	rs1974295317
NM_000092.5(COL4A4):c.4522+4T>G	rs1963375507
NM_000092.5(COL4A4):c.680G>A (p.Arg227His)	rs368248078
NM_000092.5(COL4A4):c.755G>A (p.Gly252Asp)	rs760795817
NM_000092.5(COL4A4):c.836G>A (p.Gly279Glu)	rs2060622881

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