List of variants in gene COL17A1 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: 35

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HGVS	dbSNP	gnomAD frequency
NM_000494.4(COL17A1):c.3261T>C (p.Ile1087=)	rs2476958	0.98672
NM_000494.4(COL17A1):c.1282G>A (p.Gly428Ser)	rs805698	0.84905
NM_000494.4(COL17A1):c.2107A>G (p.Met703Val)	rs805722	0.72600
NM_000494.4(COL17A1):c.3278-9C>G	rs2274098	0.72589
NM_000494.4(COL17A1):c.2904A>G (p.Pro968=)	rs2274100	0.72299
NM_000494.4(COL17A1):c.2595C>T (p.Arg865=)	rs4918079	0.71960
NM_000494.4(COL17A1):c.2883C>A (p.Pro961=)	rs2296219	0.71801
NM_000494.4(COL17A1):c.629C>T (p.Thr210Met)	rs805708	0.59454
NM_000494.4(COL17A1):c.1062C>T (p.Ala354=)	rs805701	0.56681
NM_000494.4(COL17A1):c.4109A>G (p.Asp1370Gly)	rs17116350	0.28157
NM_000494.4(COL17A1):c.*64G>C	rs805687	0.23210
NM_000494.4(COL17A1):c.*363del	rs113786874	0.22700
NM_000494.4(COL17A1):c.*638G>A	rs9425	0.19895
NM_000494.4(COL17A1):c.1267+13C>T	rs11191910	0.13838
NM_000494.4(COL17A1):c.1717+14T>C	rs17821926	0.11666
NM_000494.4(COL17A1):c.384T>C (p.Ser128=)	rs17116460	0.01786
NM_000494.4(COL17A1):c.53-10C>T	rs116946544	0.01760
NM_000494.4(COL17A1):c.2868T>A (p.Pro956=)	rs61731077	0.01081
NM_000494.4(COL17A1):c.*74G>T	rs12253626	0.00953
NM_000494.4(COL17A1):c.10A>G (p.Thr4Ala)	rs17116471	0.00936
NM_000494.4(COL17A1):c.2092+5G>A	rs142728983	0.00652
NM_000494.4(COL17A1):c.630G>A (p.Thr210=)	rs149012179	0.00615
NM_000494.4(COL17A1):c.4028C>T (p.Pro1343Leu)	rs61731087	0.00595
NM_000494.4(COL17A1):c.2605+13G>A	rs41290934	0.00547
NM_000494.4(COL17A1):c.1306G>A (p.Gly436Arg)	rs805697	0.00540
NM_000494.4(COL17A1):c.3633A>G (p.Ser1211=)	rs140197646	0.00443
NM_000494.4(COL17A1):c.3600C>T (p.Asp1200=)	rs57358586	0.00395
NM_000494.4(COL17A1):c.1307G>A (p.Gly436Glu)	rs61731082	0.00366
NM_000494.4(COL17A1):c.2755G>A (p.Asp919Asn)	rs117564807	0.00194
NM_000494.4(COL17A1):c.202+6T>G	rs139524792	0.00047
NM_000494.4(COL17A1):c.2208C>T (p.Pro736=)	rs139559170	0.00031
NM_000494.4(COL17A1):c.3085T>G (p.Ser1029Ala)	rs118166857	0.00031
NM_000494.4(COL17A1):c.2704A>T (p.Thr902Ser)	rs117837187	0.00029
NM_000494.4(COL17A1):c.566G>C (p.Gly189Ala)	rs376556766	0.00001
NM_000494.4(COL17A1):c.606G>C (p.Ser202=)	rs17116450

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