List of variants in gene COL4A4 reported as likely pathogenic by GeneDx

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_000092.5(COL4A4):c.1424G>C (p.Gly475Ala)	rs1559594442	0.00001
NM_000092.5(COL4A4):c.2392G>A (p.Gly798Ser)	rs760803228	0.00001
NM_000092.5(COL4A4):c.675dup (p.Gly226fs)	rs1553688335	0.00001
NM_000092.4(COL4A4):c.1033delG	rs1553681700
NM_000092.5(COL4A4):c.1293_1310del (p.Lys434_Gly439del)	rs1362664502
NM_000092.5(COL4A4):c.2303G>T (p.Gly768Val)
NM_000092.5(COL4A4):c.3577+1G>A
NM_000092.5(COL4A4):c.4216+1del	rs1064796549
NM_000092.5(COL4A4):c.4333+2T>C	rs755927061
NM_000092.5(COL4A4):c.4820del (p.Ala1607fs)	rs1559394354
NM_000092.5(COL4A4):c.871-1G>C	rs375450996
NM_000092.5(COL4A4):c.914_930+29del	rs1553683757

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