List of variants in gene combination COL4A3, MFF-DT reported as likely pathogenic 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
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_000091.5(COL4A3):c.2488_2488+2del	rs1363058249	0.00001
NM_000091.5(COL4A3):c.343G>A (p.Gly115Arg)	rs202147112	0.00001
NM_000091.5(COL4A3):c.361G>A (p.Gly121Ser)	rs778886174	0.00001
NM_000091.5(COL4A3):c.2207G>T (p.Gly736Val)	rs773317939
NM_000091.5(COL4A3):c.2489-1G>A	rs1574782406
NM_000091.5(COL4A3):c.2621del (p.Gly874fs)	rs759043857
NM_000091.5(COL4A3):c.4045G>A (p.Gly1349Ser)	rs2073401281

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