List of variants in gene COL4A5 reported by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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.1871G>A (p.Gly624Asp)	rs104886142	0.00005
NM_033380.3(COL4A5):c.1483C>A (p.Gln495Lys)	rs757877136	0.00001
NM_033380.2(COL4A5):c.1424-2_1430delAGGTGACAA	rs1556411578
NM_033380.3(COL4A5):c.1033-1G>A	rs2066339336
NM_033380.3(COL4A5):c.1397G>A (p.Gly466Glu)	rs104886114
NM_033380.3(COL4A5):c.1997G>A (p.Gly666Asp)	rs104886153
NM_033380.3(COL4A5):c.2116A>G (p.Ile706Val)	rs1369565068
NM_033380.3(COL4A5):c.2182G>A (p.Gly728Arg)	rs1556414460
NM_033380.3(COL4A5):c.287G>T (p.Gly96Val)	rs2066011284
NM_033380.3(COL4A5):c.3588A>G (p.Gly1196=)	rs1556445736
NM_033380.3(COL4A5):c.3614G>T (p.Gly1205Val)	rs1556446493
NM_033380.3(COL4A5):c.4906dup (p.Ile1636fs)	rs1556463583
NM_033380.3(COL4A5):c.574G>A (p.Gly192Arg)	rs104886060
NM_033380.3(COL4A5):c.808G>A (p.Gly270Arg)	rs1556406783
NM_033380.3(COL4A5):c.956G>A (p.Gly319Asp)	rs104886086

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