List of variants in gene COL4A5 reported as uncertain significance by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

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: 16

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HGVS	dbSNP	gnomAD frequency
NM_033380.3(COL4A5):c.488T>C (p.Met163Thr)	rs142503631	0.00012
NM_033380.3(COL4A5):c.4246C>T (p.Arg1416Cys)	rs104886270	0.00008
NM_033380.3(COL4A5):c.4414C>T (p.Arg1472Cys)	rs746184634	0.00005
NM_033380.3(COL4A5):c.2533A>G (p.Lys845Glu)	rs992950790	0.00002
NM_033380.3(COL4A5):c.436C>A (p.Pro146Thr)	rs764933317	0.00001
NM_033380.3(COL4A5):c.4586T>C (p.Ile1529Thr)	rs749580257	0.00001
NM_033380.3(COL4A5):c.1683A>T (p.Gly561=)	rs1569494020
NM_033380.3(COL4A5):c.1969C>A (p.Gln657Lys)	rs1569494866
NM_033380.3(COL4A5):c.2245-3A>G	rs1603293513
NM_033380.3(COL4A5):c.236A>T (p.Asp79Val)	rs775277548
NM_033380.3(COL4A5):c.3148C>G (p.Pro1050Ala)	rs143945573
NM_033380.3(COL4A5):c.3455-8T>G	rs1569505503
NM_033380.3(COL4A5):c.3808+17G>A	rs1603312557
NM_033380.3(COL4A5):c.4706+4A>C	rs1569508999
NM_033380.3(COL4A5):c.4831G>A (p.Ala1611Thr)	rs2068714182
NM_033380.3(COL4A5):c.4895C>T (p.Ser1632Leu)	rs1556463567

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