List of variants in gene combination COL4A3, MFF-DT reported as pathogenic by Fulgent Genetics, Fulgent Genetics

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: 21

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HGVS	dbSNP	gnomAD frequency
NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg)	rs200287952	0.00016
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.2371C>T (p.Arg791Ter)	rs1060499654	0.00001
NM_000091.5(COL4A3):c.3499G>A (p.Gly1167Arg)	rs267606745	0.00001
NM_000091.5(COL4A3):c.4001G>A (p.Gly1334Glu)	rs375290088	0.00001
NM_000091.5(COL4A3):c.4486C>T (p.Arg1496Ter)	rs769863513	0.00001
NM_000091.5(COL4A3):c.1006G>T (p.Gly336Cys)	rs1559873550
NM_000091.5(COL4A3):c.1184G>A (p.Gly395Glu)	rs1131691738
NM_000091.5(COL4A3):c.1219G>C (p.Gly407Arg)	rs1559878862
NM_000091.5(COL4A3):c.2323_2340del (p.772LPG[1])	rs1306992119
NM_000091.5(COL4A3):c.2330G>T (p.Gly777Val)	rs2106151987
NM_000091.5(COL4A3):c.2621_2622delinsT (p.Gly874fs)	rs1553760257
NM_000091.5(COL4A3):c.2916_2917del (p.Gly973fs)	rs1559904445
NM_000091.5(COL4A3):c.3464G>A (p.Gly1155Asp)	rs2106235905
NM_000091.5(COL4A3):c.3619G>A (p.Gly1207Arg)	rs1167411352
NM_000091.5(COL4A3):c.3620G>A (p.Gly1207Glu)	rs1553764136
NM_000091.5(COL4A3):c.4347_4353del (p.Arg1450fs)	rs748026887
NM_000091.5(COL4A3):c.4546C>T (p.Arg1516Ter)	rs759873621
NM_000091.5(COL4A3):c.92_95dup (p.Lys34fs)	rs1385106410

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