List of variants in gene combination COL4A3, MFF-DT reported as pathogenic by Natera, Inc.

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: 14

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HGVS	dbSNP	gnomAD frequency
NM_000091.5(COL4A3):c.1216C>T (p.Arg406Ter)	rs371334239	0.00005
NM_000091.5(COL4A3):c.4441C>T (p.Arg1481Ter)	rs121912824	0.00003
NM_000091.5(COL4A3):c.4825C>T (p.Arg1609Ter)	rs756231749	0.00003
NM_000091.5(COL4A3):c.391G>T (p.Glu131Ter)	rs1346138010	0.00002
NM_000091.5(COL4A3):c.4803del (p.Gly1602fs)	rs760846085	0.00002
NM_000091.5(COL4A3):c.2371C>T (p.Arg791Ter)	rs1060499654	0.00001
NM_000091.5(COL4A3):c.4348C>T (p.Arg1450Ter)	rs1189607438	0.00001
NM_000091.5(COL4A3):c.1937dup (p.Glu647fs)	rs758444182
NM_000091.5(COL4A3):c.2768_2778del (p.Val923fs)	rs766306957
NM_000091.5(COL4A3):c.345del (p.Pro116fs)	rs749390823
NM_000091.5(COL4A3):c.4347_4353del (p.Arg1450fs)	rs748026887
NM_000091.5(COL4A3):c.522dup (p.Leu175fs)	rs761358728
NM_000091.5(COL4A3):c.713del (p.Pro238fs)	rs988439345
NM_000091.5(COL4A3):c.92_95dup (p.Lys34fs)	rs1385106410

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