List of variants in gene COL5A2 reported as uncertain significance 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
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000393.5(COL5A2):c.3471+8A>T	rs367643805	0.00061
NM_000393.5(COL5A2):c.1017A>C (p.Gly339=)	rs140609193	0.00033
NM_000393.5(COL5A2):c.322+8T>C	rs372227642	0.00026
NM_000393.5(COL5A2):c.75A>G (p.Lys25=)	rs549894501	0.00026
NM_000393.5(COL5A2):c.2103C>T (p.Pro701=)	rs376612765	0.00022
NM_000393.5(COL5A2):c.3209G>A (p.Arg1070His)	rs373288848	0.00018
NM_000393.5(COL5A2):c.985A>G (p.Met329Val)	rs140785678	0.00006
NM_000393.5(COL5A2):c.870T>C (p.Pro290=)	rs139656817	0.00005
NM_000393.5(COL5A2):c.2101C>A (p.Pro701Thr)	rs765785677	0.00001
NM_000393.5(COL5A2):c.3836T>C (p.Ile1279Thr)	rs752658223	0.00001
NM_000393.5(COL5A2):c.1124G>A (p.Gly375Asp)	rs886042913
NM_000393.5(COL5A2):c.1924-3T>A	rs794727471
NM_000393.5(COL5A2):c.3202G>A (p.Gly1068Ser)	rs1332988061
NM_000393.5(COL5A2):c.3645_3662del (p.Glu1216_Gly1221del)	rs1553512960

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