ClinVar Miner

List of variants in gene COL6A3 reported as pathogenic

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Total variants: 55
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HGVS dbSNP
COL6A3, IVS15DS, GT-TC, +1
COL6A3, IVS16DS, G-A, +1
COL6A3, IVS29, A-G, +5
NM_004369.3(COL6A3):c.1393C>T (p.Arg465Ter) rs121434554
NM_004369.3(COL6A3):c.1699C>T (p.Gln567Ter)
NM_004369.3(COL6A3):c.175C>T (p.Arg59Ter) rs398124119
NM_004369.3(COL6A3):c.2277T>G (p.Tyr759Ter)
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.Ala996Serfs)
NM_004369.3(COL6A3):c.4124delA (p.Gln1375Argfs) 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.5480delG (p.Gly1827Valfs) rs777304794
NM_004369.3(COL6A3):c.5838+1G>T
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)
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
NM_004369.3(COL6A3):c.6309+1G>T rs886043919
NM_004369.3(COL6A3):c.6309+3A>G rs1553553327
NM_004369.3(COL6A3):c.6310-28_6325del44 rs1553553267
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.7542delC (p.Phe2515Serfs) rs886043519
NM_004369.3(COL6A3):c.761delG (p.Gly254Glufs) rs780921503
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_7797delTT (p.Phe2599Trpfs) rs886042623
NM_004369.3(COL6A3):c.8931delA (p.Ala2978Leufs) 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

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