List of variants in gene COL6A3 reported as likely benign by Genetic Services Laboratory, University of Chicago

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: 29

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HGVS	dbSNP	gnomAD frequency
NM_004369.4(COL6A3):c.6945C>T (p.Phe2315=)	rs2646265	0.10608
NM_004369.4(COL6A3):c.7512C>T (p.Asn2504=)	rs2646258	0.10531
NM_004369.4(COL6A3):c.9213C>T (p.His3071=)	rs2270671	0.10029
NM_004369.4(COL6A3):c.8962A>G (p.Met2988Val)	rs11690358	0.07295
NM_004369.4(COL6A3):c.8451A>G (p.Pro2817=)	rs61729844	0.06907
NM_004369.4(COL6A3):c.7842C>T (p.Ser2614=)	rs34558385	0.06903
NM_004369.4(COL6A3):c.8820G>A (p.Thr2940=)	rs11683438	0.06890
NM_004369.4(COL6A3):c.1976G>A (p.Arg659His)	rs36092870	0.02734
NM_004369.4(COL6A3):c.9123G>A (p.Thr3041=)	rs61729843	0.02678
NM_004369.4(COL6A3):c.882C>T (p.Phe294=)	rs7561625	0.02665
NM_004369.4(COL6A3):c.7509G>A (p.Arg2503=)	rs34181055	0.02427
NM_004369.4(COL6A3):c.5100G>A (p.Arg1700=)	rs34340053	0.02105
NM_004369.4(COL6A3):c.1786G>T (p.Ala596Ser)	rs34934127	0.02035
NM_004369.4(COL6A3):c.7995A>C (p.Ala2665=)	rs80193928	0.01815
NM_004369.4(COL6A3):c.3054C>T (p.Asn1018=)	rs34367758	0.01387
NM_004369.4(COL6A3):c.3420G>A (p.Thr1140=)	rs35489467	0.01378
NM_004369.4(COL6A3):c.8822C>T (p.Ala2941Val)	rs11903206	0.01334
NM_004369.4(COL6A3):c.1389C>T (p.Ala463=)	rs112896869	0.01203
NM_004369.4(COL6A3):c.768C>T (p.Val256=)	rs79606264	0.01148
NM_004369.4(COL6A3):c.2419G>A (p.Ala807Thr)	rs113155945	0.01061
NM_004369.4(COL6A3):c.4005C>T (p.Gly1335=)	rs34503558	0.01014
NM_004369.4(COL6A3):c.4184G>A (p.Arg1395Gln)	rs80272723	0.01000
NM_004369.4(COL6A3):c.6156+4C>T	rs111228504	0.00884
NM_004369.4(COL6A3):c.6105G>A (p.Lys2035=)	rs35556524	0.00550
NM_004369.4(COL6A3):c.8010G>A (p.Ala2670=)	rs79313758	0.00483
NM_004369.4(COL6A3):c.7928C>T (p.Ala2643Val)	rs111595697	0.00482
NM_004369.4(COL6A3):c.8572G>A (p.Val2858Ile)	rs111859552	0.00388
NM_004369.4(COL6A3):c.7359G>A (p.Glu2453=)	rs114199044	0.00027
NM_004369.4(COL6A3):c.2488G>T (p.Ala830Ser)	rs77181645

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