List of variants in gene COL6A3 reported as benign by Athena Diagnostics Inc

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: 40

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HGVS	dbSNP	gnomAD frequency
NM_004369.4(COL6A3):c.6855G>C (p.Gly2285=)	rs3790993	0.56512
NM_004369.4(COL6A3):c.6369G>A (p.Leu2123=)	rs2646254	0.25503
NM_004369.4(COL6A3):c.7596G>A (p.Lys2532=)	rs2291795	0.12954
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.6653C>T (p.Pro2218Leu)	rs36117715	0.07538
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.7329C>T (p.Ala2443=)	rs10084221	0.06701
NM_004369.4(COL6A3):c.9129C>T (p.Arg3043=)	rs10201909	0.06660
NM_004369.4(COL6A3):c.3262A>C (p.Lys1088Gln)	rs11896521	0.05751
NM_004369.4(COL6A3):c.1914G>A (p.Arg638=)	rs34904623	0.03265
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.1786G>T (p.Ala596Ser)	rs34934127	0.02035
NM_004369.4(COL6A3):c.7086A>C (p.Gly2362=)	rs35902696	0.01962
NM_004369.4(COL6A3):c.6981A>G (p.Glu2327=)	rs35993209	0.01827
NM_004369.4(COL6A3):c.8145A>G (p.Leu2715=)	rs35763271	0.01816
NM_004369.4(COL6A3):c.7995A>C (p.Ala2665=)	rs80193928	0.01815
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.4727G>A (p.Arg1576Gln)	rs61729839	0.01085
NM_004369.4(COL6A3):c.2419G>A (p.Ala807Thr)	rs113155945	0.01061
NM_004369.4(COL6A3):c.4184G>A (p.Arg1395Gln)	rs80272723	0.01000
NM_004369.4(COL6A3):c.1791C>T (p.Phe597=)	rs76576170	0.00714
NM_004369.4(COL6A3):c.4285+9G>A	rs75780727	0.00613
NM_004369.4(COL6A3):c.4156G>A (p.Glu1386Lys)	rs146092501	0.00602
NM_004369.4(COL6A3):c.7928C>T (p.Ala2643Val)	rs111595697	0.00482
NM_004369.4(COL6A3):c.1182C>T (p.Thr394=)	rs114750216	0.00432
NM_004369.4(COL6A3):c.9069C>T (p.Thr3023=)	rs111234422	0.00431
NM_004369.4(COL6A3):c.2030G>A (p.Arg677His)	rs35227432	0.00389
NM_004369.4(COL6A3):c.3507C>T (p.Asn1169=)	rs138426138	0.00009
NM_004369.4(COL6A3):c.2488G>T (p.Ala830Ser)	rs77181645
NM_004369.4(COL6A3):c.7645C>T (p.Arg2549Trp)	rs151079701
NM_004369.4(COL6A3):c.8491G>C (p.Asp2831His)	rs36104025
NM_004369.4(COL6A3):c.8868TGC[3] (p.Ala2960del)	rs35879189

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