ClinVar Miner

List of variants in gene COL6A3 reported as pathogenic

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Total variants: 65
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HGVS dbSNP
COL6A3, IVS15DS, GT-TC, +1
NM_004369.3(COL6A3):c.1393C>T (p.Arg465Ter) rs121434554
NM_004369.3(COL6A3):c.1699C>T (p.Gln567Ter) rs1559261557
NM_004369.3(COL6A3):c.175C>T (p.Arg59Ter) rs398124119
NM_004369.3(COL6A3):c.2277T>G (p.Tyr759Ter) rs1559257971
NM_004369.3(COL6A3):c.2431C>T (p.Gln811Ter) rs1574719512
NM_004369.3(COL6A3):c.2506C>T (p.Arg836Ter) rs761796175
NM_004369.3(COL6A3):c.2620C>T (p.Arg874Ter) rs1553561409
NM_004369.3(COL6A3):c.2985_2988del (p.Ala996fs) rs1559253935
NM_004369.3(COL6A3):c.4124del (p.Gln1375fs) rs886042447
NM_004369.3(COL6A3):c.4366C>T (p.Arg1456Ter) rs781043870
NM_004369.3(COL6A3):c.4835C>A (p.Ser1612Ter) rs201532239
NM_004369.3(COL6A3):c.5010T>A (p.Tyr1670Ter) rs886042402
NM_004369.3(COL6A3):c.5036G>A (p.Gly1679Glu) rs121434553
NM_004369.3(COL6A3):c.5177T>G (p.Leu1726Arg) rs121434555
NM_004369.3(COL6A3):c.5480del (p.Gly1827fs) rs777304794
NM_004369.3(COL6A3):c.5838+1G>T rs1559234260
NM_004369.3(COL6A3):c.6064-2A>G rs1553554384
NM_004369.3(COL6A3):c.6156+1G>A rs1553554298
NM_004369.3(COL6A3):c.6157-2A>C rs886041434
NM_004369.3(COL6A3):c.6157G>T (p.Gly2053Cys) rs1559228507
NM_004369.3(COL6A3):c.6158G>T (p.Gly2053Val) rs886041329
NM_004369.3(COL6A3):c.6175G>T (p.Gly2059Cys) rs758124326
NM_004369.3(COL6A3):c.6181C>T (p.Arg2061Ter) rs797045479
NM_004369.3(COL6A3):c.6193G>C (p.Gly2065Arg) rs397515332
NM_004369.3(COL6A3):c.6210+1G>A rs398124126
NM_004369.3(COL6A3):c.6212_6309+28del rs1553553313
NM_004369.3(COL6A3):c.6220G>A (p.Gly2074Ser) rs886044252
NM_004369.3(COL6A3):c.6230G>A (p.Gly2077Asp) rs1553553646
NM_004369.3(COL6A3):c.6230G>T (p.Gly2077Val) rs1553553646
NM_004369.3(COL6A3):c.6238G>C (p.Gly2080Arg) rs1553553625
NM_004369.3(COL6A3):c.6239G>A (p.Gly2080Asp) rs794727188
NM_004369.3(COL6A3):c.6282+1G>A rs398124128
NM_004369.3(COL6A3):c.6293G>T (p.Gly2098Val) rs794727206
NM_004369.3(COL6A3):c.6309+1G>A rs886043919
NM_004369.3(COL6A3):c.6309+1G>T rs886043919
NM_004369.3(COL6A3):c.6309+3A>G rs1553553327
NM_004369.3(COL6A3):c.6309G>A (p.Lys2103=) rs1574975196
NM_004369.3(COL6A3):c.6310-2A>G rs1559225993
NM_004369.3(COL6A3):c.6354+1G>A rs886042883
NM_004369.3(COL6A3):c.6354+1G>T rs886042883
NM_004369.3(COL6A3):c.6604C>T (p.Arg2202Ter) rs774115247
NM_004369.3(COL6A3):c.7024C>T (p.Arg2342Ter) rs886043113
NM_004369.3(COL6A3):c.7447A>G (p.Lys2483Glu) rs139260335
NM_004369.3(COL6A3):c.7502G>A (p.Arg2501His) rs541928674
NM_004369.3(COL6A3):c.7542del (p.Phe2515fs) rs886043519
NM_004369.3(COL6A3):c.7660G>A (p.Ala2554Thr) rs786205870
NM_004369.3(COL6A3):c.76C>T (p.Gln26Ter) rs763187844
NM_004369.3(COL6A3):c.7796_7797del (p.Phe2599fs) rs886042623
NM_004369.3(COL6A3):c.8931del (p.Ala2978fs) rs1553544667
NM_004369.3(COL6A3):c.8966-1G>C rs767517186
NM_004369.3(COL6A3):c.9128G>A (p.Arg3043His) rs552651651
NM_004369.3(COL6A3):c.9193C>T (p.Gln3065Ter) rs886043992
NM_004369.3(COL6A3):c.9245C>G (p.Pro3082Arg) rs182976977
NM_004369.4(COL6A3):c.1825C>T (p.Arg609Ter)
NM_004369.4(COL6A3):c.1840C>T (p.Gln614Ter) rs1574724863
NM_004369.4(COL6A3):c.2162C>G (p.Ser721Ter)
NM_004369.4(COL6A3):c.4899del (p.Glu1634fs)
NM_004369.4(COL6A3):c.6156+1G>T
NM_004369.4(COL6A3):c.6310-28_6325del rs1553553267
NM_004369.4(COL6A3):c.6930+5G>A rs749037028
NM_004369.4(COL6A3):c.7666C>T (p.Gln2556Ter)
NM_004369.4(COL6A3):c.7720del (p.Leu2574fs) rs1574942920
NM_004369.4(COL6A3):c.8281C>T (p.Gln2761Ter)
NM_057164.5(COL6A3):c.92-6634del rs780921503

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