List of variants in gene combination COL4A3, MFF-DT 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: 17

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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.1918G>A (p.Gly640Arg)	rs200672668	0.00001
NM_000091.5(COL4A3):c.272G>A (p.Gly91Asp)	rs1414411811	0.00001
NM_000091.5(COL4A3):c.4100G>C (p.Gly1367Ala)	rs886055742	0.00001
NM_000091.5(COL4A3):c.548G>T (p.Gly183Val)	rs775544184	0.00001
NM_000091.5(COL4A3):c.949_950del (p.Arg317fs)	rs756133651	0.00001
NM_000091.5(COL4A3):c.1184G>A (p.Gly395Glu)	rs1131691738
NM_000091.5(COL4A3):c.1504+1G>A	rs1559882199
NM_000091.5(COL4A3):c.2215G>A (p.Gly739Arg)	rs375040636
NM_000091.5(COL4A3):c.2507G>A (p.Gly836Glu)	rs2072040353
NM_000091.5(COL4A3):c.2647G>A (p.Gly883Arg)	rs1559897288
NM_000091.5(COL4A3):c.3068_3069del (p.Pro1023fs)	rs1064796094
NM_000091.5(COL4A3):c.3882+5G>A	rs1553764454
NM_000091.5(COL4A3):c.3956-1G>A
NM_000091.5(COL4A3):c.4307G>A (p.Gly1436Glu)
NM_000091.5(COL4A3):c.688G>A (p.Gly230Ser)	rs2125932297
NM_000091.5(COL4A3):c.793G>A (p.Gly265Arg)	rs374787000

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