ClinVar Miner

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

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Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_004369.4(COL6A3):c.9034G>C (p.Ala3012Pro) rs2270669 0.81638
NM_004369.4(COL6A3):c.8780T>C (p.Met2927Thr) rs6728818 0.68552
NM_004369.4(COL6A3):c.6855G>C (p.Gly2285=) rs3790993 0.56512
NM_004369.4(COL6A3):c.7929G>A (p.Ala2643=) rs4433949 0.38748
NM_004369.4(COL6A3):c.9206C>T (p.Thr3069Ile) rs1131296 0.36920
NM_004369.4(COL6A3):c.6369G>A (p.Leu2123=) rs2646254 0.25503
NM_004369.4(COL6A3):c.4533G>T (p.Gly1511=) rs2645774 0.23421
NM_004369.4(COL6A3):c.3129C>T (p.Gly1043=) rs12622093 0.20507
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.9213C>T (p.His3071=) rs2270671 0.10029
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.5100G>A (p.Arg1700=) rs34340053 0.02105
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.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.1613C>T (p.Thr538Met) rs34741387 0.00817
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.6105G>A (p.Lys2035=) rs35556524 0.00550
NM_004369.4(COL6A3):c.1471G>C (p.Asp491His) rs112010940 0.00503
NM_004369.4(COL6A3):c.1475C>G (p.Thr492Ser) rs113897824 0.00503
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.3191G>A (p.Arg1064Gln) rs112638391 0.00306
NM_004369.4(COL6A3):c.8009C>T (p.Ala2670Val) rs142851023 0.00061
NM_004369.4(COL6A3):c.3680-5C>T rs370146203 0.00046
NM_004369.4(COL6A3):c.4888C>T (p.Pro1630Ser) rs145560772 0.00041
NM_004369.4(COL6A3):c.776C>T (p.Ala259Val) rs149924028 0.00031
NM_004369.4(COL6A3):c.1150G>A (p.Ala384Thr) rs374267444 0.00028
NM_004369.4(COL6A3):c.7359G>A (p.Glu2453=) rs114199044 0.00027
NM_004369.4(COL6A3):c.862G>A (p.Asp288Asn) rs115729513 0.00009
NM_004369.4(COL6A3):c.973G>A (p.Ala325Thr) rs905662421 0.00002
NM_004369.4(COL6A3):c.6211-9del rs1280994015 0.00001
NM_004369.4(COL6A3):c.2488G>T (p.Ala830Ser) rs77181645
NM_004369.4(COL6A3):c.4311T>C (p.Ile1437=) rs2646260
NM_004369.4(COL6A3):c.6181C>T (p.Arg2061Ter) rs797045479
NM_004369.4(COL6A3):c.8491G>C (p.Asp2831His) rs36104025

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