List of variants in gene COL5A2 reported as likely pathogenic for not provided

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_000393.5(COL5A2):c.322+1G>C	rs770598613	0.00014
NM_000393.5(COL5A2):c.3373G>A (p.Gly1125Arg)	rs151187317	0.00003
NM_000393.5(COL5A2):c.2104G>A (p.Gly702Arg)	rs772811492	0.00001
NM_000393.5(COL5A2):c.2968G>A (p.Gly990Arg)	rs1040238147	0.00001
NM_000393.5(COL5A2):c.1114G>T (p.Gly372Trp)
NM_000393.5(COL5A2):c.1401G>A (p.Pro467=)	rs1553515794
NM_000393.5(COL5A2):c.2104G>C (p.Gly702Arg)
NM_000393.5(COL5A2):c.2391+5G>A	rs1553514799
NM_000393.5(COL5A2):c.2950G>C (p.Gly984Arg)	rs1576493931
NM_000393.5(COL5A2):c.3391G>A (p.Gly1131Ser)	rs747946828
NM_000393.5(COL5A2):c.3544G>T (p.Gly1182Cys)	rs1057524163
NM_000393.5(COL5A2):c.682G>A (p.Gly228Arg)	rs2105652981

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