List of variants in gene combination COL5A1, LOC101448202 reported as benign by Breakthrough Genomics, Breakthrough Genomics

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: 32

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HGVS	dbSNP	gnomAD frequency
NM_000093.5(COL5A1):c.4645-112A>T	rs3128599	0.85666
NM_000093.5(COL5A1):c.4645-111T>G	rs3124936	0.85662
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.4955-28T>C	rs7868111	0.71059
NM_000093.5(COL5A1):c.*1125A>T	rs1134170	0.66610
NM_000093.5(COL5A1):c.4608+31T>C	rs9697186	0.65324
NM_000093.5(COL5A1):c.*2501T>C	rs3128575	0.63348
NM_000093.5(COL5A1):c.5136+280G>A	rs3128578	0.55167
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.5371-66T>G	rs12554062	0.12739
NM_000093.5(COL5A1):c.5371-42A>C	rs114101109	0.07567
NM_000093.5(COL5A1):c.4608+195G>A	rs74960017	0.06286
NM_000093.5(COL5A1):c.4644+176G>A	rs59721025	0.05263
NM_000093.5(COL5A1):c.4699-24C>T	rs45443491	0.04875
NM_000093.5(COL5A1):c.4447-45G>A	rs3811147	0.04567
NM_000093.5(COL5A1):c.4609-134A>G	rs12346222	0.04553
NM_000093.5(COL5A1):c.5137-142C>T	rs76439190	0.02791
NM_000093.5(COL5A1):c.5137-104C>T	rs77932602	0.02522
NM_000093.5(COL5A1):c.4609-107G>A	rs73664153	0.02347
NM_000093.5(COL5A1):c.4644+99C>G	rs116680869	0.02154
NM_000093.5(COL5A1):c.4644+129C>G	rs114653197	0.02093
NM_000093.5(COL5A1):c.4699-140C>T	rs113110193	0.01856
NM_000093.5(COL5A1):c.4955-16C>T	rs112712705	0.01710
NM_000093.5(COL5A1):c.4955-119C>T	rs112278047	0.01700
NM_000093.5(COL5A1):c.5067+20C>G	rs112600748	0.01689
NM_000093.5(COL5A1):c.*733C>A	rs3196378
NM_000093.5(COL5A1):c.4482G>C (p.Pro1494=)	rs2228560
NM_000093.5(COL5A1):c.4609-77G>C	rs7036997
NM_000093.5(COL5A1):c.4955-139C>G	rs7855787
NM_000093.5(COL5A1):c.5136+373G>A	rs10123667

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