List of variants in gene COL4A4 reported as pathogenic by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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.2617G>A (p.Gly873Arg)	rs929684384	0.00001
NM_000092.5(COL4A4):c.4129C>T (p.Arg1377Ter)	rs121912861	0.00001
NM_000092.5(COL4A4):c.2279dup (p.Asp761fs)	rs1553643669
NM_000092.5(COL4A4):c.230G>C (p.Gly77Ala)	rs112204566
NM_000092.5(COL4A4):c.2377del (p.Ala793fs)	rs1976320157
NM_000092.5(COL4A4):c.2638del (p.Ala880fs)	rs778043831
NM_000092.5(COL4A4):c.446G>T (p.Gly149Val)	rs374815903

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