ClinVar Miner

List of variants in gene COL6A3 reported as likely pathogenic

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Total variants: 37
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HGVS dbSNP
NC_000002.11:g.(?_238267144)_(238269837_?)del
NM_004369.3(COL6A3):c.175C>T (p.Arg59Ter) rs398124119
NM_004369.3(COL6A3):c.1897+1G>T rs1230578718
NM_004369.3(COL6A3):c.2302C>G (p.Arg768Gly) rs200722892
NM_004369.3(COL6A3):c.3844G>A (p.Val1282Met) rs535661345
NM_004369.3(COL6A3):c.4121A>T (p.Asp1374Val) rs766488017
NM_004369.3(COL6A3):c.4390C>T (p.Arg1464Ter) rs912671116
NM_004369.3(COL6A3):c.4624C>T (p.Gln1542Ter) rs1553557696
NM_004369.3(COL6A3):c.5036G>A (p.Gly1679Glu) rs121434553
NM_004369.3(COL6A3):c.5838+1G>T rs1559234260
NM_004369.3(COL6A3):c.5950C>T (p.Arg1984Ter) rs771941724
NM_004369.3(COL6A3):c.6167G>A (p.Gly2056Glu) rs1064795558
NM_004369.3(COL6A3):c.6193G>A (p.Gly2065Ser) rs397515332
NM_004369.3(COL6A3):c.6193G>C (p.Gly2065Arg) rs397515332
NM_004369.3(COL6A3):c.6199G>A (p.Glu2067Lys) rs760446904
NM_004369.3(COL6A3):c.6212G>A (p.Gly2071Asp) rs886043737
NM_004369.3(COL6A3):c.6238G>A (p.Gly2080Ser) rs1553553625
NM_004369.3(COL6A3):c.6248G>T (p.Gly2083Val) rs1085307697
NM_004369.3(COL6A3):c.6283-2A>C rs797044988
NM_004369.3(COL6A3):c.6309+1G>T rs886043919
NM_004369.3(COL6A3):c.6310-28_6325del44 rs1553553267
NM_004369.3(COL6A3):c.6310-2A>G rs1559225993
NM_004369.3(COL6A3):c.6320_6322del (p.Gly2107del) rs1559225974
NM_004369.3(COL6A3):c.6331_6339CTGGATGGT[1] (p.2111_2113LDG[1]) rs1553553248
NM_004369.3(COL6A3):c.6354+1G>A rs886042883
NM_004369.3(COL6A3):c.6355-1G>A rs113605136
NM_004369.3(COL6A3):c.6799G>A (p.Gly2267Ser) rs749855513
NM_004369.3(COL6A3):c.6853G>A (p.Gly2285Arg) rs1268762655
NM_004369.3(COL6A3):c.6890G>C (p.Gly2297Ala) rs886043576
NM_004369.3(COL6A3):c.6898G>A (p.Gly2300Arg) rs763348222
NM_004369.3(COL6A3):c.7264C>T (p.Arg2422Ter) rs878854379
NM_004369.3(COL6A3):c.7447A>G (p.Lys2483Glu) rs139260335
NM_004369.3(COL6A3):c.749C>A (p.Ser250Ter) rs1085307777
NM_004369.3(COL6A3):c.7669-2delA rs764193290
NM_004369.3(COL6A3):c.8076T>G (p.Tyr2692Ter) rs1306053610
NM_004369.3(COL6A3):c.8465-13_8467=
NM_004369.3(COL6A3):c.8965+1G>A rs995147980

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