List of variants in gene COL4A5 reported as likely pathogenic by Athena Diagnostics Inc

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln)	rs104886308	0.00002
NM_033380.3(COL4A5):c.1340-1G>A	rs753437190	0.00001
NM_033380.3(COL4A5):c.1111G>T (p.Gly371Ter)	rs878853015
NM_033380.3(COL4A5):c.1508G>T (p.Gly503Val)	rs1569493679
NM_033380.3(COL4A5):c.1779+1G>A	rs104886337
NM_033380.3(COL4A5):c.1895G>T (p.Gly632Val)
NM_033380.3(COL4A5):c.2024_2029del (p.Gly675_Asp676del)	rs1569494903
NM_033380.3(COL4A5):c.3238G>C (p.Gly1080Arg)	rs1556421731
NM_033380.3(COL4A5):c.3427G>T (p.Gly1143Cys)	rs104886228
NM_033380.3(COL4A5):c.3872dup (p.Asn1292fs)	rs2068330297
NM_033380.3(COL4A5):c.458G>T (p.Gly153Val)	rs1569488946
NM_033380.3(COL4A5):c.983del (p.Gly328fs)	rs1556407684

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