ClinVar Miner

List of variants in gene COL6A3 reported as likely pathogenic for not provided

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Total variants: 38
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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.8567+2dup rs776144262 0.00004
NM_004369.4(COL6A3):c.175C>T (p.Arg59Ter) rs398124119 0.00003
NM_004369.4(COL6A3):c.6604C>T (p.Arg2202Ter) rs774115247 0.00001
NM_004369.4(COL6A3):c.6799G>A (p.Gly2267Ser) rs749855513 0.00001
NM_004369.4(COL6A3):c.6890G>C (p.Gly2297Ala) rs886043576 0.00001
NM_004369.4(COL6A3):c.2302C>G (p.Arg768Gly) rs200722892
NM_004369.4(COL6A3):c.3473del (p.Gly1158fs)
NM_004369.4(COL6A3):c.4285+1G>T rs1574701592
NM_004369.4(COL6A3):c.4390C>T (p.Arg1464Ter) rs912671116
NM_004369.4(COL6A3):c.4624C>T (p.Gln1542Ter) rs1553557696
NM_004369.4(COL6A3):c.5036G>A (p.Gly1679Glu) rs121434553
NM_004369.4(COL6A3):c.526G>T (p.Gly176Ter)
NM_004369.4(COL6A3):c.5662_5670del (p.Ser1888_Val1890del) rs2077539093
NM_004369.4(COL6A3):c.589del (p.Met197fs) rs2106387939
NM_004369.4(COL6A3):c.5992C>T (p.Arg1998Ter)
NM_004369.4(COL6A3):c.6167G>A (p.Gly2056Glu) rs1064795558
NM_004369.4(COL6A3):c.6193G>A (p.Gly2065Ser) rs397515332
NM_004369.4(COL6A3):c.6193G>C (p.Gly2065Arg) rs397515332
NM_004369.4(COL6A3):c.6199G>A (p.Glu2067Lys) rs760446904
NM_004369.4(COL6A3):c.6211G>T (p.Gly2071Cys) rs2106342311
NM_004369.4(COL6A3):c.6212G>A (p.Gly2071Asp) rs886043737
NM_004369.4(COL6A3):c.6230G>A (p.Gly2077Asp) rs1553553646
NM_004369.4(COL6A3):c.6238G>A (p.Gly2080Ser) rs1553553625
NM_004369.4(COL6A3):c.6248G>T (p.Gly2083Val) rs1085307697
NM_004369.4(COL6A3):c.6331CTGGATGGT[1] (p.2111LDG[1]) rs1553553248
NM_004369.4(COL6A3):c.6355-1G>A rs113605136
NM_004369.4(COL6A3):c.6355-2A>G rs2106341060
NM_004369.4(COL6A3):c.6418G>A (p.Gly2140Arg) rs372697731
NM_004369.4(COL6A3):c.6537+1G>A
NM_004369.4(COL6A3):c.6787C>T (p.Arg2263Ter) rs748966916
NM_004369.4(COL6A3):c.749C>A (p.Ser250Ter) rs1085307777
NM_004369.4(COL6A3):c.761del (p.Gly254fs) rs780921503
NM_004369.4(COL6A3):c.8076T>G (p.Tyr2692Ter) rs1306053610
NM_004369.4(COL6A3):c.8467=
NM_004369.4(COL6A3):c.8866del (p.Ala2956fs)
NM_004369.4(COL6A3):c.8965+1G>A rs995147980
NM_004369.4(COL6A3):c.9193C>T (p.Gln3065Ter) rs886043992

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