ClinVar Miner

List of variants in gene COL6A3 reported as uncertain significance by Illumina Laboratory Services, Illumina

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Gene type:
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Total variants: 84
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HGVS dbSNP gnomAD frequency
NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu) rs139260335 0.00057
NM_004369.4(COL6A3):c.4399A>G (p.Asn1467Asp) rs138049094 0.00031
NM_004369.4(COL6A3):c.5337G>A (p.Arg1779=) rs756243022 0.00026
NM_004369.4(COL6A3):c.6798C>T (p.Thr2266=) rs116541926 0.00011
NM_004369.4(COL6A3):c.1557C>T (p.Asp519=) rs145586177 0.00009
NM_004369.4(COL6A3):c.1996G>A (p.Val666Ile) rs111584250 0.00007
NM_004369.4(COL6A3):c.1313-7C>T rs764201905 0.00006
NM_004369.4(COL6A3):c.2643C>T (p.Ser881=) rs550122375 0.00006
NM_004369.4(COL6A3):c.2754C>T (p.Tyr918=) rs114492689 0.00006
NM_004369.4(COL6A3):c.3732C>T (p.Ala1244=) rs193265138 0.00006
NM_004369.4(COL6A3):c.461C>T (p.Ser154Leu) rs147701785 0.00006
NM_004369.4(COL6A3):c.5693T>C (p.Val1898Ala) rs774606469 0.00006
NM_004369.4(COL6A3):c.7558A>T (p.Thr2520Ser) rs144152285 0.00006
NM_004369.4(COL6A3):c.7832C>T (p.Ala2611Val) rs114806654 0.00006
NM_004369.4(COL6A3):c.3901C>T (p.Arg1301Trp) rs150430813 0.00005
NM_004369.4(COL6A3):c.3932A>G (p.Asn1311Ser) rs200592625 0.00005
NM_004369.4(COL6A3):c.4504G>A (p.Ala1502Thr) rs201722265 0.00005
NM_004369.4(COL6A3):c.7659C>T (p.Asn2553=) rs369335838 0.00005
NM_004369.4(COL6A3):c.8632A>G (p.Thr2878Ala) rs761653490 0.00005
NM_004369.4(COL6A3):c.1263C>T (p.Gly421=) rs775821966 0.00004
NM_004369.4(COL6A3):c.2206G>A (p.Gly736Ser) rs150008830 0.00004
NM_004369.4(COL6A3):c.4285+13C>T rs368338594 0.00004
NM_004369.4(COL6A3):c.6931-6T>C rs376338674 0.00004
NM_004369.4(COL6A3):c.7748C>T (p.Thr2583Met) rs140021275 0.00004
NM_004369.4(COL6A3):c.8270G>C (p.Arg2757Thr) rs746608405 0.00004
NM_004369.4(COL6A3):c.9198C>T (p.Val3066=) rs765101399 0.00004
NM_004369.4(COL6A3):c.3862G>A (p.Ala1288Thr) rs761799119 0.00003
NM_004369.4(COL6A3):c.4285+14G>A rs373893821 0.00003
NM_004369.4(COL6A3):c.8865C>T (p.Pro2955=) rs199936838 0.00003
NM_004369.4(COL6A3):c.4973T>C (p.Val1658Ala) rs377630865 0.00002
NM_004369.4(COL6A3):c.6234G>A (p.Val2078=) rs775641801 0.00002
NM_004369.4(COL6A3):c.*377C>T rs557107413 0.00001
NM_004369.4(COL6A3):c.*754T>A rs886055801 0.00001
NM_004369.4(COL6A3):c.-6T>C rs746340926 0.00001
NM_004369.4(COL6A3):c.-88A>G rs912938756 0.00001
NM_004369.4(COL6A3):c.1728C>A (p.Ser576Arg) rs760311733 0.00001
NM_004369.4(COL6A3):c.1770T>C (p.Ala590=) rs774234847 0.00001
NM_004369.4(COL6A3):c.2706T>C (p.Leu902=) rs754060767 0.00001
NM_004369.4(COL6A3):c.3789C>T (p.Asp1263=) rs779279055 0.00001
NM_004369.4(COL6A3):c.3810G>C (p.Arg1270=) rs886042792 0.00001
NM_004369.4(COL6A3):c.410G>A (p.Arg137Gln) rs779126378 0.00001
NM_004369.4(COL6A3):c.4935T>C (p.Asp1645=) rs767560639 0.00001
NM_004369.4(COL6A3):c.5092A>G (p.Thr1698Ala) rs762789220 0.00001
NM_004369.4(COL6A3):c.5646G>T (p.Ser1882=) rs886055807 0.00001
NM_004369.4(COL6A3):c.5655G>C (p.Val1885=) rs756468711 0.00001
NM_004369.4(COL6A3):c.5778G>A (p.Thr1926=) rs555406717 0.00001
NM_004369.4(COL6A3):c.6878C>T (p.Thr2293Met) rs759657526 0.00001
NM_004369.4(COL6A3):c.7438C>T (p.Leu2480=) rs771258471 0.00001
NM_004369.4(COL6A3):c.7649A>C (p.Gln2550Pro) rs886055805 0.00001
NM_004369.4(COL6A3):c.7691A>T (p.His2564Leu) rs886055804 0.00001
NM_004369.4(COL6A3):c.807T>C (p.Leu269=) rs776357610 0.00001
NM_004369.4(COL6A3):c.8310G>A (p.Val2770=) rs766217603 0.00001
NM_004369.4(COL6A3):c.8954C>G (p.Thr2985Ser) rs1700530729 0.00001
NM_004369.4(COL6A3):c.*285A>G rs545556564
NM_004369.4(COL6A3):c.*615G>A rs1699811416
NM_004369.4(COL6A3):c.1125C>T (p.Phe375=) rs2078184502
NM_004369.4(COL6A3):c.1217G>T (p.Arg406Leu) rs753651742
NM_004369.4(COL6A3):c.2253A>G (p.Thr751=) rs886055809
NM_004369.4(COL6A3):c.2401G>A (p.Asp801Asn) rs2077916971
NM_004369.4(COL6A3):c.2938C>A (p.Pro980Thr) rs769664063
NM_004369.4(COL6A3):c.3235G>A (p.Glu1079Lys) rs762778512
NM_004369.4(COL6A3):c.3412G>A (p.Val1138Ile) rs199964760
NM_004369.4(COL6A3):c.3696G>A (p.Arg1232=) rs2077714785
NM_004369.4(COL6A3):c.3795C>A (p.Gly1265=) rs886055808
NM_004369.4(COL6A3):c.3832G>A (p.Asp1278Asn) rs752309834
NM_004369.4(COL6A3):c.3874A>G (p.Lys1292Glu) rs2077708555
NM_004369.4(COL6A3):c.4108G>T (p.Ala1370Ser) rs372234605
NM_004369.4(COL6A3):c.4184G>T (p.Arg1395Leu) rs80272723
NM_004369.4(COL6A3):c.4378A>G (p.Ser1460Gly) rs1286385833
NM_004369.4(COL6A3):c.4468C>T (p.Leu1490=) rs2077621767
NM_004369.4(COL6A3):c.4777G>T (p.Val1593Phe) rs2077611399
NM_004369.4(COL6A3):c.4880C>T (p.Thr1627Ile) rs149261556
NM_004369.4(COL6A3):c.5084A>T (p.Asp1695Val) rs147231661
NM_004369.4(COL6A3):c.5311G>C (p.Val1771Leu) rs1220526606
NM_004369.4(COL6A3):c.5420A>T (p.Glu1807Val) rs2077563075
NM_004369.4(COL6A3):c.5833G>A (p.Val1945Met) rs113332380
NM_004369.4(COL6A3):c.5924G>T (p.Arg1975Leu) rs375287084
NM_004369.4(COL6A3):c.6066C>T (p.Asp2022=) rs886044237
NM_004369.4(COL6A3):c.6146T>G (p.Ile2049Ser) rs2077441565
NM_004369.4(COL6A3):c.6211-23_6211-14delinsTTTTGC rs886055806
NM_004369.4(COL6A3):c.6558A>G (p.Gly2186=) rs2077340902
NM_004369.4(COL6A3):c.7163-2A>G rs1559207854
NM_004369.4(COL6A3):c.8050A>C (p.Lys2684Gln) rs886055803
NM_004369.4(COL6A3):c.8189C>T (p.Ala2730Val) rs138466455

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