ClinVar Miner

List of variants in gene COL6A3 reported as likely pathogenic

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Gene type:
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Total variants: 95
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HGVS dbSNP gnomAD frequency
NM_004369.4(COL6A3):c.1613C>T (p.Thr538Met) rs34741387 0.00817
NM_004369.4(COL6A3):c.7258C>T (p.Arg2420Trp) rs150165484 0.00131
NM_004369.4(COL6A3):c.8189C>A (p.Ala2730Asp) rs138466455 0.00110
NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu) rs139260335 0.00057
NM_004369.4(COL6A3):c.9128G>A (p.Arg3043His) rs552651651 0.00025
NM_004369.4(COL6A3):c.6422C>A (p.Pro2141His) rs369169235 0.00010
NM_004369.4(COL6A3):c.2306C>T (p.Ala769Val) rs753966526 0.00006
NM_004369.4(COL6A3):c.6898G>A (p.Gly2300Arg) rs763348222 0.00006
NM_004369.4(COL6A3):c.4121A>T (p.Asp1374Val) rs766488017 0.00004
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.1825C>T (p.Arg609Ter) rs755382829 0.00001
NM_004369.4(COL6A3):c.1897+1G>T rs1230578718 0.00001
NM_004369.4(COL6A3):c.5950C>T (p.Arg1984Ter) rs771941724 0.00001
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.6853G>A (p.Gly2285Arg) rs1268762655 0.00001
NM_004369.4(COL6A3):c.6890G>C (p.Gly2297Ala) rs886043576 0.00001
NC_000002.11:g.(238247761_238249094)_(238257307_238258789)del
NC_000002.11:g.238258810delG rs794729205
NC_000002.12:g.(?_237362747)_(237372158_?)del
NM_004369.4(COL6A3):c.1313-442_1595delinsGCAAC
NM_004369.4(COL6A3):c.2302C>G (p.Arg768Gly) rs200722892
NM_004369.4(COL6A3):c.2506C>T (p.Arg836Ter) rs761796175
NM_004369.4(COL6A3):c.2803C>T (p.Arg935Trp)
NM_004369.4(COL6A3):c.3071-1G>A
NM_004369.4(COL6A3):c.3473del (p.Gly1158fs)
NM_004369.4(COL6A3):c.3844G>A (p.Val1282Met) rs535661345
NM_004369.4(COL6A3):c.4285+1G>T rs1574701592
NM_004369.4(COL6A3):c.4286-2A>C
NM_004369.4(COL6A3):c.4286-2A>G rs761453030
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.4789C>T (p.Arg1597Ter)
NM_004369.4(COL6A3):c.4950_4963del (p.Arg1651fs)
NM_004369.4(COL6A3):c.5035G>A (p.Gly1679Arg) rs2106350905
NM_004369.4(COL6A3):c.5036G>A (p.Gly1679Glu) rs121434553
NM_004369.4(COL6A3):c.526G>T (p.Gly176Ter)
NM_004369.4(COL6A3):c.5281del (p.Asp1761fs)
NM_004369.4(COL6A3):c.5524G>A (p.Gly1842Arg)
NM_004369.4(COL6A3):c.5524G>C (p.Gly1842Arg) rs1395597644
NM_004369.4(COL6A3):c.5662_5670del (p.Ser1888_Val1890del) rs2077539093
NM_004369.4(COL6A3):c.5838+1G>T rs1559234260
NM_004369.4(COL6A3):c.589del (p.Met197fs) rs2106387939
NM_004369.4(COL6A3):c.5992C>T (p.Arg1998Ter)
NM_004369.4(COL6A3):c.6130G>A (p.Gly2044Arg) rs1559229322
NM_004369.4(COL6A3):c.6156G>A (p.Lys2052=)
NM_004369.4(COL6A3):c.6156G>C (p.Lys2052Asn) rs398124125
NM_004369.4(COL6A3):c.6157-1G>A
NM_004369.4(COL6A3):c.6158G>A (p.Gly2053Asp)
NM_004369.4(COL6A3):c.6158G>T (p.Gly2053Val) rs886041329
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.6215_6225del (p.Glu2072fs) rs1574976615
NM_004369.4(COL6A3):c.6221G>A (p.Gly2074Asp)
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.6238G>C (p.Gly2080Arg) rs1553553625
NM_004369.4(COL6A3):c.6238G>T (p.Gly2080Cys)
NM_004369.4(COL6A3):c.6248G>T (p.Gly2083Val) rs1085307697
NM_004369.4(COL6A3):c.6282+1G>C
NM_004369.4(COL6A3):c.6331CTGGATGGT[1] (p.2111LDG[1]) rs1553553248
NM_004369.4(COL6A3):c.6354+1G>A rs886042883
NM_004369.4(COL6A3):c.6355-1G>A rs113605136
NM_004369.4(COL6A3):c.6355-2A>G rs2106341060
NM_004369.4(COL6A3):c.6355G>A (p.Gly2119Arg)
NM_004369.4(COL6A3):c.6409-1G>C
NM_004369.4(COL6A3):c.6418G>A (p.Gly2140Arg) rs372697731
NM_004369.4(COL6A3):c.6424C>T (p.Arg2142Ter)
NM_004369.4(COL6A3):c.6537+1G>A
NM_004369.4(COL6A3):c.6787C>T (p.Arg2263Ter) rs748966916
NM_004369.4(COL6A3):c.6967-2A>G
NM_004369.4(COL6A3):c.6967G>A (p.Gly2323Ser)
NM_004369.4(COL6A3):c.7162+1G>A
NM_004369.4(COL6A3):c.7264C>T (p.Arg2422Ter) rs878854379
NM_004369.4(COL6A3):c.7331G>C (p.Arg2444Pro) rs895701604
NM_004369.4(COL6A3):c.749C>A (p.Ser250Ter) rs1085307777
NM_004369.4(COL6A3):c.761del (p.Gly254fs) rs780921503
NM_004369.4(COL6A3):c.7669-2del rs764193290
NM_004369.4(COL6A3):c.7975C>T (p.Gln2659Ter) rs2076974450
NM_004369.4(COL6A3):c.8074del (p.Tyr2692fs) rs2106319784
NM_004369.4(COL6A3):c.8076T>G (p.Tyr2692Ter) rs1306053610
NM_004369.4(COL6A3):c.8467=
NM_004369.4(COL6A3):c.8634del (p.Thr2879fs) rs2106314700
NM_004369.4(COL6A3):c.8866del (p.Ala2956fs)
NM_004369.4(COL6A3):c.8965+1G>A rs995147980
NM_004369.4(COL6A3):c.9047dup (p.Pro3017fs)
NM_004369.4(COL6A3):c.9175del (p.Val3059fs)
NM_004369.4(COL6A3):c.9193C>T (p.Gln3065Ter) rs886043992
NM_004369.4(COL6A3):c.9230-1G>A
NM_004369.4(COL6A3):c.9234del (p.Lys3078fs)

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