List of variants in gene combination COL5A1, LOC101448202 reported as benign by Illumina Laboratory Services, Illumina

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: 34

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HGVS	dbSNP	gnomAD frequency
NM_000093.5(COL5A1):c.*2395G>T	rs4504708	0.76943
NM_000093.5(COL5A1):c.*83C>T	rs13946	0.76018
NM_000093.5(COL5A1):c.*1125A>T	rs1134170	0.66610
NM_000093.5(COL5A1):c.*2501T>C	rs3128575	0.63348
NM_000093.5(COL5A1):c.*267C>T	rs12722	0.43648
NM_000093.5(COL5A1):c.*894T>C	rs11103544	0.20603
NM_000093.5(COL5A1):c.*1642G>A	rs116053626	0.02360
NM_000093.5(COL5A1):c.*1922G>A	rs74979726	0.02332
NM_000093.5(COL5A1):c.5068-7T>C	rs113256540	0.01472
NM_000093.5(COL5A1):c.4699-6C>T	rs113090154	0.00923
NM_000093.5(COL5A1):c.5151C>T (p.Asp1717=)	rs61729558	0.00781
NM_000093.5(COL5A1):c.*283G>A	rs114171895	0.00635
NM_000093.5(COL5A1):c.5270C>T (p.Thr1757Met)	rs2229817	0.00346
NM_000093.5(COL5A1):c.*58C>T	rs56259444	0.00207
NM_000093.5(COL5A1):c.*1343A>G	rs77145856	0.00088
NM_000093.5(COL5A1):c.*187C>T	rs565085023	0.00085
NM_000093.5(COL5A1):c.4795G>C (p.Glu1599Gln)	rs149212775	0.00083
NM_000093.5(COL5A1):c.*865T>A	rs910306671	0.00073
NM_000093.5(COL5A1):c.*424A>G	rs574355137	0.00037
NM_000093.5(COL5A1):c.*479G>A	rs184272423	0.00034
NM_000093.5(COL5A1):c.*145G>A	rs181323324	0.00023
NM_000093.5(COL5A1):c.*1287C>T	rs189437752	0.00012
NM_000093.5(COL5A1):c.*608G>A	rs537858864	0.00009
NM_000093.5(COL5A1):c.*2090C>T	rs578207933	0.00006
NM_000093.5(COL5A1):c.*302C>G	rs376087882	0.00005
NM_000093.5(COL5A1):c.*489A>G	rs142194317	0.00005
NM_000093.5(COL5A1):c.*1260G>A	rs557696379	0.00001
NM_000093.5(COL5A1):c.*1086ATCT[1]	rs16399
NM_000093.5(COL5A1):c.*1807G>C	rs374715103
NM_000093.5(COL5A1):c.*733C>A	rs3196378
NM_000093.5(COL5A1):c.870_873dup	rs10628678
NM_000093.5(COL5A1):c.*948C>G	rs142032213
NM_000093.5(COL5A1):c.4482G>C (p.Pro1494=)	rs2228560
NM_000093.5(COL5A1):c.5350G>A (p.Ala1784Thr)	rs143859495

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