List of variants in gene COL4A5 reported by Eurofins NTD LLC (GA)

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_033380.3(COL4A5):c.1331T>G (p.Ile444Ser)	rs2272946	0.11020
NM_033380.3(COL4A5):c.2055T>C (p.Leu685=)	rs7884085	0.10905
NM_033380.3(COL4A5):c.2768-11A>G	rs1006269	0.09324
NM_033380.3(COL4A5):c.3148C>T (p.Pro1050Ser)	rs143945573	0.00155
NM_033380.3(COL4A5):c.2858G>T (p.Gly953Val)	rs78972735	0.00119
NM_033380.3(COL4A5):c.2215C>G (p.Pro739Ala)	rs104886164	0.00034
NM_033380.3(COL4A5):c.3023A>G (p.Lys1008Arg)	rs142929745	0.00027
NM_033380.3(COL4A5):c.3296C>T (p.Ser1099Phe)	rs767087695	0.00021
NM_033380.3(COL4A5):c.858T>C (p.Gly286=)	rs183837448	0.00014
NM_033380.3(COL4A5):c.89A>G (p.Tyr30Cys)	rs150305490	0.00008
NM_033380.3(COL4A5):c.2295A>G (p.Pro765=)	rs141247183	0.00002
NM_033380.3(COL4A5):c.1844G>A (p.Gly615Glu)	rs794727397
NM_033380.3(COL4A5):c.3527G>A (p.Gly1176Glu)	rs886042570
NM_033380.3(COL4A5):c.3787C>T (p.Pro1263Ser)	rs1012489715
NM_033380.3(COL4A5):c.645+2T>C	rs1569490387

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