List of variants in gene COL4A5 reported as pathogenic by Sydney Genome Diagnostics, Children's Hospital Westmead

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: 25

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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.5048G>A (p.Arg1683Gln)	rs104886308	0.00002
NM_033380.3(COL4A5):c.1166-1G>A	rs1569492951
NM_033380.3(COL4A5):c.1226G>A (p.Gly409Asp)	rs104886101
NM_033380.3(COL4A5):c.1643G>A (p.Gly548Asp)	rs281874673
NM_033380.3(COL4A5):c.1763_1779+3del	rs2066542728
NM_033380.3(COL4A5):c.1807G>A (p.Gly603Ser)	rs1603290681
NM_033380.3(COL4A5):c.1815del (p.Asn607fs)	rs2066568818
NM_033380.3(COL4A5):c.2201del (p.Gly734fs)	rs2066663117
NM_033380.3(COL4A5):c.2387G>A (p.Gly796Glu)	rs1569495819
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg)	rs104886189
NM_033380.3(COL4A5):c.2678G>C (p.Gly893Ala)	rs397515496
NM_033380.3(COL4A5):c.2686G>A (p.Gly896Ser)	rs1556420349
NM_033380.3(COL4A5):c.3310G>C (p.Gly1104Arg)	rs1569504072
NM_033380.3(COL4A5):c.3374-1G>A	rs2068058963
NM_033380.3(COL4A5):c.3556C>T (p.Gln1186Ter)	rs1381117009
NM_033380.3(COL4A5):c.3632G>A (p.Gly1211Glu)	rs104886247
NM_033380.3(COL4A5):c.3883C>T (p.Gln1295Ter)	rs2068330799
NM_033380.3(COL4A5):c.3942+2T>C	rs2068333361
NM_033380.3(COL4A5):c.4376dup (p.Gly1460fs)	rs2068571470
NM_033380.3(COL4A5):c.4705C>T (p.Arg1569Ter)	rs104886286
NM_033380.3(COL4A5):c.4769C>A (p.Pro1590His)	rs281874747
NM_033380.3(COL4A5):c.687+1G>A	rs104886440
NM_033380.3(COL4A5):c.757delinsCT (p.Val253fs)	rs2066189282
NM_033380.3(COL4A5):c.796C>T (p.Arg266Ter)	rs104886071

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